Variant
TP53 c.993+1G>A
NM_000546.6(TP53):c.993+1G>A (p.?)
- p.?
- rs11575997
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 7 September 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
c.993+1G>A is a splice variant in TP53: 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 Li-Fraumeni Syndrome (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Li-Fraumeni SyndromeClinVar VCV000528261 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 7 September 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in TP53
c.993+1G>A lies in intron 9, between exons 9 and 10 of the 11 in TP53's MANE Select transcript, NM_000546.6.
Molecular details
| Gene | TP53 |
|---|---|
| Transcript | NM_000546.6MANE Select |
| Coding DNA change (HGVS c.) | c.993+1G>A |
| Protein change (HGVS p.) | p.? |
| Predicted consequence | Splice site or regionsplice_donor_variant (opens in a new tab)coding_transcript_intron_variant |
| Predicted impact | High |
| Position (GRCh38) | chr17:7673534 C>T |
| Position (GRCh37) | chr17:7576852 C>T |
| dbSNP ID | rs11575997 (opens in a new tab) |
| ClinVar Variation ID | VCV000528261 (opens in a new tab) |
| ClinVar Allele ID | 532188 |
| ClinGen Allele Registry ID | CA397835645 (opens in a new tab) |
| ClinVar name | NM_000546.6(TP53):c.993+1G>A |
TP53 c.993+1G>A in other databases
Reports that look at this variant (1)
These Genome Test condition reports include c.993+1G>A among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome | Autosomal dominant |
Other variants in TP53
- A138PLikely pathogenic3 stars out of 4
- A138VLikely pathogenic3 stars out of 4
- A161_Y163delinsDLikely pathogenic3 stars out of 4
- A347DPathogenic3 stars out of 4
- c.-29+1G>TLikely pathogenic3 stars out of 4
- c.97-1G>APathogenic3 stars out of 4
- c.375+5G>ALikely pathogenic3 stars out of 4
- c.919+1G>APathogenic3 stars out of 4
- c.993+1delLikely pathogenic3 stars out of 4
- C124XPathogenic3 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). TP53 c.993+1G>A (rs11575997) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/tp53/variants/c-993plus1g-a
Dante Labs. TP53 c.993+1G>A (rs11575997) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tp53/variants/c-993plus1g-a
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