--- title: "BRCA2 A1237Vfs*2 (c.3710del, rs1555283371) | Dante Labs" description: "ClinVar classifies BRCA2 A1237Vfs*2 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/brca2/variants/a1237vfs2" --- 1. [Genes](https://dantelabs.com/genes) 2. [BRCA2](https://dantelabs.com/genes/brca2) 3. BRCA2 A1237Vfs\*2 Variant # BRCA2 A1237Vfs\*2 NM_000059.4(BRCA2):c.3710del (p.Ala1237ValfsTer2) Also known as - p.Ala1237ValfsTer2 - p.A1237Vfs\*2 - rs1555283371 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 15 December 2017 * 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 2026.10.19-9814e911 Facts last changed 18 October 2026 ## Summary A1237Vfs\*2 is a frameshift variant in BRCA2: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic for breast-ovarian cancer, familial, susceptibility to, 2 (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | -------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | ---------------- | | breast-ovarian cancer, familial, susceptibility to, 2[ClinVar VCV000441458 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/441458/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 15 December 2017 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria A1237Vfs\*2 meets, from its predicted effect in BRCA2, gnomAD and ClinVar. | Criterion | Strength | Rests on | | ------------------------------------------------------- | ----------- | ---------------------------------------------- | | PVS1 Null variant where loss of function causes disease | Very strong | frameshift_variant on NM_000059.4 | | PM2 Absent or very rare in population databases | Supporting | Not seen in gnomAD exomes, gnomAD genomes | | PP5 A reputable source reports it as pathogenic | Supporting | ClinVar: Pathogenic (reviewed by expert panel) | On these criteria alone: pathogenic. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often A1237Vfs\*2 is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | ---------------- | ------------ | ----------- | ------------ | | gnomAD exomes | Not seen | 0 of 0 | 0 | | | gnomAD genomes | Not seen | 0 of 0 | 0 | | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [A1237Vfs\*2 in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/13-32338064-GC-G?dataset=gnomad_r4) ## Where it lies in BRCA2 A1237Vfs\*2 lies in exon 11 of the 27 in BRCA2's MANE Select transcript, NM_000059.4. [BRCA2 variants in exon 11 →](https://dantelabs.com/genes/brca2/variants?exon=11) [BRCA2's gene diagram →](https://dantelabs.com/genes/brca2#gene-structure) ## Molecular details | Gene | [BRCA2](https://dantelabs.com/genes/brca2) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000059.4 MANE Select | | Coding DNA change (HGVS c.) | c.3710del | | Protein change (HGVS p.) | p.Ala1237ValfsTer2 p.A1237Vfs\*2 | | Predicted consequence | Frameshift [frameshift_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001589) [frameshift_truncation (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001910) | | Predicted impact | High | | Position (GRCh38) | chr13:32338064 GC>G | | Position (GRCh37) | chr13:32912201 GC>G | | dbSNP ID | [rs1555283371 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1555283371) | | ClinVar Variation ID | [VCV000441458 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/441458/) | | ClinVar Allele ID | 434993 | | ClinGen Allele Registry ID | [CA658653655 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA658653655) | | ClinVar name | NM_000059.4(BRCA2):c.3710del (p.Ala1237fs) | ## BRCA2 A1237Vfs\*2 in other databases - [ClinVar VCV000441458 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/441458/) - [dbSNP rs1555283371 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1555283371) - [ClinGen Allele Registry CA658653655 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA658653655) - [gnomAD 13-32338064-GC-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/13-32338064-GC-G?dataset=gnomad_r4) - [Ensembl rs1555283371 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1555283371) ## Reports that look at this variant (1) These Genome Test condition reports include A1237Vfs\*2 among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------------------------- | --------------------------------------------- | ------------------ | | [Hereditary Breast and Ovarian Cancer (BRCA1/2)](https://dantelabs.com/conditions/hereditary-breast-ovarian-cancer) | Hereditary Breast and Ovarian Cancer Syndrome | Autosomal dominant | | | BRCA2-related cancer predisposition | Autosomal dominant | ## Other variants in BRCA2 - [A22Qfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a22qfs3) - [A39Lfs\*41 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a39lfs41) - [A75Dfs\*26 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a75dfs26) - [A127Sfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a127sfs3) - [A199Hfs\*11 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a199hfs11) - [A248Vfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a248vfs3) - [A483Gfs\*31 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a483gfs31) - [A483Qfs\*2 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a483qfs2) - [A495Ffs\*17 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a495ffs17) - [A518Qfs\*7 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a518qfs7) [All BRCA2 variants](https://dantelabs.com/genes/brca2/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 2026-10-19-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19). - 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 2026.10.19-9814e911 of 19 October 2026. ## Cite this page APA > Dante Labs. (18 October 2026). BRCA2 A1237Vfs\*2 (c.3710del, rs1555283371) (Version 2026.10.19-9814e911). Retrieved 19 October 2026, from https\://dantelabs.com/genes/brca2/variants/a1237vfs2 Vancouver > Dante Labs. BRCA2 A1237Vfs\*2 (c.3710del, rs1555283371) \[Internet]. Version 2026.10.19-9814e911. 18 October 2026 \[cited 19 October 2026]. Available from: https\://dantelabs.com/genes/brca2/variants/a1237vfs2 Download citation [RIS](https://dantelabs.com/genes/brca2/variants/a1237vfs2/cite.ris) [BibTeX](https://dantelabs.com/genes/brca2/variants/a1237vfs2/cite.bib) [CSL-JSON](https://dantelabs.com/genes/brca2/variants/a1237vfs2/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)