ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8554G>A (p.Ala2852Thr) (rs1555287769)

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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 RCV000570948 SCV000664996 likely benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Color Health, Inc RCV000570948 SCV001359091 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-16 criteria provided, single submitter clinical testing
Invitae RCV001297064 SCV001486047 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-07-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 2852 of the BRCA2 protein (p.Ala2852Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 480969). 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. 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.

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