Variant
PMS2 c.164-518_803+252delinsCG
NM_000535.7(PMS2):c.164-518_803+252delinsCG (p.?)
Also known as
- p.?
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 5 September 2013
- Expert panel
- International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
c.164-518_803+252delinsCG is a splice variant in PMS2: it sits at or near a boundary between an exon and an intron, where it may change how the gene's RNA is put together. ClinVar classifies it as pathogenic for Lynch Syndrome (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Lynch SyndromeClinVar VCV000091309 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 5 September 2013 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in PMS2
c.164-518_803+252delinsCG lies in intron 7, between exons 7 and 8 of the 15 in PMS2's MANE Select transcript, NM_000535.7.
Molecular details
| Gene | PMS2 |
|---|---|
| Transcript | NM_000535.7MANE Select |
| Coding DNA change (HGVS c.) | c.164-518_803+252delinsCG |
| Protein change (HGVS p.) | p.? |
| Predicted consequence | Splice site or regionexon_loss_variantsplice_acceptor_variant (opens in a new tab)splice_donor_variant (opens in a new tab)splice_donor_5th_base_variant (opens in a new tab)splice_region_variant (opens in a new tab)exonic_splice_region_variant (opens in a new tab)splice_donor_region_variant (opens in a new tab)splice_polypyrimidine_tract_variant (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr7:5997074 TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT>CG |
| Position (GRCh37) | chr7:6036705 TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT>CG |
| ClinVar Variation ID | VCV000091309 (opens in a new tab) |
| ClinVar Allele ID | 96784 |
| ClinGen Allele Registry ID | CA331742 (opens in a new tab) |
| ClinVar name | NM_000535.7(PMS2):c.164-518_803+252delinsCG |
PMS2 c.164-518_803+252delinsCG in other databases
- ClinVar VCV000091309 (opens in a new tab)
- ClinGen Allele Registry CA331742 (opens in a new tab)
- gnomAD 7-5997074-TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT-CG (opens in a new tab)
- Ensembl 7-5997074-TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT-CG (opens in a new tab)
Reports that look at this variant (1)
These Genome Test condition reports include c.164-518_803+252delinsCG among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Lynch Syndrome | Lynch Syndrome | Autosomal dominant |
Other variants in PMS2
- c.1A>GLikely pathogenic3 stars out of 4
- c.24-12_107delinsAAATPathogenic3 stars out of 4
- c.163+2T>CLikely pathogenic3 stars out of 4
- c.164-2A>GLikely pathogenic3 stars out of 4
- c.251-2A>GLikely pathogenic3 stars out of 4
- c.538-478_705+456delPathogenic3 stars out of 4
- c.705+1G>TLikely pathogenic3 stars out of 4
- c.989-2A>GLikely pathogenic3 stars out of 4
- c.989-296_1144+706delPathogenic3 stars out of 4
- c.1144+2T>ALikely pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). PMS2 c.164-518_803+252delinsCG (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/pms2/variants/c-164-518to803plus252delinscg
Dante Labs. PMS2 c.164-518_803+252delinsCG [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pms2/variants/c-164-518to803plus252delinscg
Read your whole genome
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