ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.96T>G (p.Phe32Leu)

dbSNP: rs1555280339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581478 SCV000689219 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529224 SCV003453531 uncertain significance Hereditary breast ovarian cancer syndrome 2024-11-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 32 of the BRCA2 protein (p.Phe32Leu). This variant is not present in population databases (gnomAD no frequency). 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: 491386). 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.
All of Us Research Program, National Institutes of Health RCV004002319 SCV004846367 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-06-28 criteria provided, single submitter clinical testing
GeneDx RCV004592892 SCV005078410 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing Identified in an individual undergoing BRCA1/2 testing (PMID: 29176636); 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 324T>G; This variant is associated with the following publications: (PMID: 19609323, 29176636)

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