ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6160G>C (p.Ala2054Pro)

dbSNP: rs80358855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300745 SCV001489894 uncertain significance Hereditary breast ovarian cancer syndrome 2021-06-28 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. This variant has been reported in an individual affected with esophageal cancer (PMID: 14647438). ClinVar contains an entry for this variant (Variation ID: 52021). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 2054 of the BRCA2 protein (p.Ala2054Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157312 SCV003850986 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).
Ambry Genetics RCV003157312 SCV005552009 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-12 criteria provided, single submitter clinical testing The p.A2054P variant (also known as c.6160G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 6160. The alanine at codon 2054 is replaced by proline, an amino acid with highly 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113538 SCV000146781 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2004-02-20 no assertion criteria provided clinical testing

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