ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8072C>T (p.Ser2691Phe)

dbSNP: rs80359047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000045414 SCV000073427 uncertain significance Hereditary breast ovarian cancer syndrome 2024-08-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2691 of the BRCA2 protein (p.Ser2691Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ovarian cancer (PMID: 27208206). ClinVar contains an entry for this variant (Variation ID: 52497). 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 with a negative predictive value of 95%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA2 function (PMID: 29394989, 35736817). 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696658 SCV005199831 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113867 SCV000147266 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2000-11-10 no assertion criteria provided clinical testing

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