ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6433A>C (p.Asn2145His) (rs1555284690)

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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 RCV000587687 SCV000694971 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6433A>C variant affects a non-conserved nucleotide, resulting in amino acid change from Asn to His. 3/5 in-silico tools predict this variant to be benign. This variant was not found in 118022 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories nor was evaluated for a functional impact by in vivo/vitro studies. The variant has co-occurred with a pathgenic BRCA1 variant, c.3661G>T (p.E1221X)suggesting this BRCA2 missense mutation may be benign. However, due to the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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