ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1880C>T (p.Ala627Val)

dbSNP: rs587782055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130526 SCV000185395 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-24 criteria provided, single submitter clinical testing The p.A627V variant (also known as c.1880C>T), located in coding exon 9 of the BRCA2 gene, results from a C to T substitution at nucleotide position 1880. The alanine at codon 627 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001315911 SCV001506505 uncertain significance Hereditary breast ovarian cancer syndrome 2022-04-01 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: 141847). 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 627 of the BRCA2 protein (p.Ala627Val).
University of Washington Department of Laboratory Medicine, University of Washington RCV000130526 SCV003846358 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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