ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9385C>T (p.Pro3129Ser)

gnomAD frequency: 0.00001  dbSNP: rs80359213
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773159 SCV000906700 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823907 SCV000964778 uncertain significance Hereditary breast ovarian cancer syndrome 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3129 of the BRCA2 protein (p.Pro3129Ser). 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: 38237). 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.
Ambry Genetics RCV000773159 SCV002682422 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-24 criteria provided, single submitter clinical testing The p.P3129S variant (also known as c.9385C>T), located in coding exon 24 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9385. The proline at codon 3129 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803094 SCV004846166 uncertain significance BRCA2-related cancer predisposition 2024-03-05 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 3129 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031820 SCV000054428 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2012-01-17 no assertion criteria provided clinical testing

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