Variant
BRCA1 S713X
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
- p.S713*:TCA>TGA
- 2257C>G
- p.Ser713Ter
- p.S713*
- rs80357233
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 8 September 2016
- Expert panel
- Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
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
S713X is a nonsense variant in BRCA1: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| breast-ovarian cancer, familial, susceptibility to, 1ClinVar VCV000037451 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 8 September 2016 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in BRCA1
S713X lies in exon 10 of the 23 in BRCA1's MANE Select transcript, NM_007294.4.
Molecular details
| Gene | BRCA1 |
|---|---|
| Transcript | NM_007294.4MANE Select |
| Coding DNA change (HGVS c.) | c.2138C>G |
| Protein change (HGVS p.) | p.Ser713Terp.S713* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr17:43093393 G>C |
| Position (GRCh37) | chr17:41245410 G>C |
| dbSNP ID | rs80357233 (opens in a new tab) |
| ClinVar Variation ID | VCV000037451 (opens in a new tab) |
| ClinVar Allele ID | 46007 |
| ClinGen Allele Registry ID | CA001436 (opens in a new tab) |
| ClinVar name | NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) |
| Other names | p.S713*:TCA>TGA, 2257C>G |
BRCA1 S713X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include S713X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hereditary Breast and Ovarian Cancer (BRCA1/2) | Hereditary Breast and Ovarian Cancer Syndrome | Autosomal dominant |
| BRCA1-related cancer predisposition | Autosomal dominant |
Other variants in BRCA1
- A92Ffs*4Pathogenic3 stars out of 4
- A134Qfs*7Pathogenic3 stars out of 4
- A302Cfs*2Pathogenic3 stars out of 4
- A302Lfs*12Pathogenic3 stars out of 4
- A322Kfs*2Pathogenic3 stars out of 4
- A322Lfs*19Pathogenic3 stars out of 4
- A407Sfs*5Pathogenic3 stars out of 4
- A433Pfs*8Pathogenic3 stars out of 4
- A469Qfs*6Pathogenic3 stars out of 4
- A521XPathogenic3 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). BRCA1 S713X (c.2138C>G, rs80357233) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/brca1/variants/s713x
Dante Labs. BRCA1 S713X (c.2138C>G, rs80357233) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/brca1/variants/s713x
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