ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7160C>T (p.Ala2387Val)

gnomAD frequency: 0.00001  dbSNP: rs587778126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026102 SCV001188418 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The p.A2387V variant (also known as c.7160C>T), located in coding exon 13 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7160. The alanine at codon 2387 is replaced by valine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001217709 SCV001389560 uncertain significance Hereditary breast ovarian cancer syndrome 2022-12-20 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 133737). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2387 of the BRCA2 protein (p.Ala2387Val).
Baylor Genetics RCV004567040 SCV005059014 uncertain significance Familial cancer of breast 2024-03-05 criteria provided, single submitter clinical testing
ITMI RCV000120354 SCV000084506 not provided not specified 2013-09-19 no assertion provided reference population

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