ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu)

dbSNP: rs587776476
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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 RCV000554636 SCV000635743 uncertain significance Hereditary breast ovarian cancer syndrome 2024-05-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3145 of the BRCA2 protein (p.Val3145Leu). 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: 462526). 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.
Color Diagnostics, LLC DBA Color Health RCV000776684 SCV000912310 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776684 SCV002687167 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-26 criteria provided, single submitter clinical testing The p.V3145L variant (also known as c.9433G>T), located in coding exon 24 of the BRCA2 gene, results from a G to T substitution at nucleotide position 9433. The valine at codon 3145 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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.

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