ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)

gnomAD frequency: 0.00001  dbSNP: rs949790323
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470163 SCV000549479 uncertain significance Hereditary breast ovarian cancer syndrome 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3148 of the BRCA2 protein (p.Ala3148Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with breast cancer and/or clinical features of Lynch syndrome (PMID: 25980754, 35264596, 35534704). ClinVar contains an entry for this variant (Variation ID: 409411). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508342 SCV000600862 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570747 SCV000665972 likely benign Hereditary cancer-predisposing syndrome 2020-08-18 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.
Color Diagnostics, LLC DBA Color Health RCV000570747 SCV000684064 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-27 criteria provided, single submitter clinical testing
Mendelics RCV000989087 SCV001139262 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000989087 SCV004846176 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-11-30 criteria provided, single submitter clinical testing

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