ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)

dbSNP: rs398122575
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000076987 SCV000296494 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000076987 SCV000489623 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562449 SCV000665933 likely benign Hereditary cancer-predisposing syndrome 2024-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics RCV000076987 SCV001138976 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709294 SCV001207986 uncertain significance Hereditary breast ovarian cancer syndrome 2024-12-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 237 of the BRCA2 protein (p.Asp237Asn). This variant is present in population databases (rs398122575, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 91470). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV000562449 SCV001736309 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-16 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 237 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has been identified in 1/250352 chromosomes 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.
GeneDx RCV003317080 SCV004021522 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing Identified in individual(s) referred for hereditary cancer testing (Li et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 937G>A; This variant is associated with the following publications: (PMID: 26295337, 32377563, 29884841, 31853058)
All of Us Research Program, National Institutes of Health RCV004804051 SCV005424260 uncertain significance BRCA2-related cancer predisposition 2024-09-11 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 237 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has been identified in 1/250352 chromosomes 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.
Sharing Clinical Reports Project (SCRP) RCV000076987 SCV000108784 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2009-03-17 no assertion criteria provided clinical testing

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