--- title: "MSH2 E205X (c.613G>T, rs63749984) | Dante Labs" description: "ClinVar classifies MSH2 E205X as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/msh2/variants/e205x" --- 1. [Genes](https://dantelabs.com/genes) 2. [MSH2](https://dantelabs.com/genes/msh2) 3. MSH2 E205X Variant # MSH2 E205X NM_000251.3(MSH2):c.613G>T (p.Glu205Ter) Also known as - p.Glu205Ter - p.E205\* - rs63749984 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed 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-c6eea6bf Facts last changed 16 October 2026 ## Summary E205X is a nonsense variant in MSH2: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for Lynch Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | -------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | ---------------- | | [Lynch Syndrome](https://dantelabs.com/conditions/lynch-syndrome) [ClinVar VCV000091150 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/91150/) | Pathogenic | 3 stars out of 4 reviewed 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 MSH2 E205X lies in exon 3 of the 16 in MSH2's MANE Select transcript, NM_000251.3. [MSH2 variants in exon 3 →](https://dantelabs.com/genes/msh2/variants?exon=3) [MSH2's gene diagram →](https://dantelabs.com/genes/msh2#gene-structure) ## Molecular details | Gene | [MSH2](https://dantelabs.com/genes/msh2) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000251.3 MANE Select | | Coding DNA change (HGVS c.) | c.613G>T | | Protein change (HGVS p.) | p.Glu205Ter p.E205\* | | Predicted consequence | Nonsense (stop gained) [stop_gained (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001587) | | Predicted impact | High | | Position (GRCh38) | chr2:47410340 G>T | | Position (GRCh37) | chr2:47637479 G>T | | dbSNP ID | [rs63749984 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs63749984) | | ClinVar Variation ID | [VCV000091150 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/91150/) | | ClinVar Allele ID | 96625 | | ClinGen Allele Registry ID | [CA021588 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA021588) | | ClinVar name | NM_000251.3(MSH2):c.613G>T (p.Glu205Ter) | ## MSH2 E205X in other databases - [ClinVar VCV000091150 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/91150/) - [dbSNP rs63749984 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs63749984) - [ClinGen Allele Registry CA021588 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA021588) - [gnomAD 2-47410340-G-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/2-47410340-G-T?dataset=gnomad_r4) - [Ensembl rs63749984 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs63749984) ## Reports that look at this variant (1) These Genome Test condition reports include E205X among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------- | -------------- | ------------------ | | [Lynch Syndrome](https://dantelabs.com/conditions/lynch-syndrome) | Lynch Syndrome | Autosomal dominant | ## Other variants in MSH2 - [A123Vfs\*51 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a123vfs51) - [A230Lfs\*16 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a230lfs16) - [A230Sfs\*2 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a230sfs2) - [A266Qfs\*8 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a266qfs8) - [A370Qfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a370qfs3) - [A398Gfs\*19 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a398gfs19) - [A499Cfs\*14 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a499cfs14) - [A500Pfs\*26 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a500pfs26) - [A573Pfs\*17 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a573pfs17) - [A636P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/msh2/variants/a636p) [All MSH2 variants](https://dantelabs.com/genes/msh2/variants) ## 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 APA > Dante Labs. (16 October 2026). MSH2 E205X (c.613G>T, rs63749984) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/msh2/variants/e205x Vancouver > Dante Labs. MSH2 E205X (c.613G>T, rs63749984) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/msh2/variants/e205x Download citation [RIS](https://dantelabs.com/genes/msh2/variants/e205x/cite.ris) [BibTeX](https://dantelabs.com/genes/msh2/variants/e205x/cite.bib) [CSL-JSON](https://dantelabs.com/genes/msh2/variants/e205x/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)