ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9617A>C (p.Gln3206Pro)

dbSNP: rs397507433
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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 RCV001852632 SCV002157616 uncertain significance Hereditary breast ovarian cancer syndrome 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3206 of the BRCA2 protein (p.Gln3206Pro). 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: 38256). 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%. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230373 SCV003928380 uncertain significance not specified 2023-04-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566789 SCV005059012 uncertain significance Familial cancer of breast 2024-03-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998124 SCV005625355 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing The BRCA2 c.9617A>C (p.Gln3206Pro) variant has not been reported in individuals with BRCA2-related conditions in the published literature. However, it has also been described to be located in a region of the BRCA2 gene that is tolerant to missense sequence changes (PMID: 31911673 (2020)). It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Sharing Clinical Reports Project (SCRP) RCV000031839 SCV000054447 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2008-01-17 no assertion criteria provided clinical testing

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