ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5537T>G (p.Ile1846Arg) (rs763330257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590007 SCV000694878 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5537T>G (p.Ile1846Arg) variant causes a missense change involving the alteration of a conserved nucleotide and 3/4 in silico tools (Mutation Taster not captured here due to low p-value) predict a damaging outcome for this variant. However, these predictions have yet to be functionally assessed. The variant of interest has not been found in a large, broad control population, ExAC in 120812 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. The variant is located in one of the BRCA repeats that is critical for binding to RAD51 (a key protein in DNA recombinational repair) and resistance to methyl methanesulphonate treatment (IPR002093). Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).

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