ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)

dbSNP: rs863224599
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196282 SCV000254220 uncertain significance Hereditary breast ovarian cancer syndrome 2022-11-17 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 216262). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2836 of the BRCA2 protein (p.Ser2836Phe).
Color Diagnostics, LLC DBA Color Health RCV000580488 SCV000683975 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Counsyl RCV000662827 SCV000785676 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2017-10-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000662827 SCV001368807 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2019-01-18 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,BP1.
Baylor Genetics RCV003462321 SCV004213613 uncertain significance Familial cancer of breast 2023-09-04 criteria provided, single submitter clinical testing

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