ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)

dbSNP: rs398122613
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218620 SCV000273382 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-14 criteria provided, single submitter clinical testing The p.S3131P variant (also known as c.9391T>C), located in coding exon 24 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9391. The serine at codon 3131 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506488 SCV000600860 uncertain significance not specified 2017-04-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218620 SCV000906701 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-05 criteria provided, single submitter clinical testing This missense variant replaces serine with proline at codon 3131 of the BRCA2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001219085 SCV001391006 likely benign Hereditary breast ovarian cancer syndrome 2025-01-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000218620 SCV002532028 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-03 criteria provided, single submitter curation
GeneDx RCV002466422 SCV002762556 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 9619T>C; This variant is associated with the following publications: (PMID: 12228710)
All of Us Research Program, National Institutes of Health RCV000077041 SCV004846167 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing This missense variant replaces serine with proline at codon 3131 of the BRCA2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004566939 SCV005058986 uncertain significance Familial cancer of breast 2024-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007989 SCV005633997 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 2024-02-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077041 SCV000108838 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2012-10-03 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732651 SCV005355335 uncertain significance BRCA2-related disorder 2024-09-02 no assertion criteria provided clinical testing The BRCA2 c.9391T>C variant is predicted to result in the amino acid substitution p.Ser3131Pro. This variant has been reported in both individuals with breast cancer and in unaffected individuals (Breast Cancer Association Consortium et al 2021. PubMed ID: 33471991). This variant has an interpretation of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/91524/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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