ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7142C>A (p.Pro2381Gln) (rs746751519)

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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 RCV000589775 SCV000695044 uncertain significance not provided 2016-03-08 criteria provided, single submitter clinical testing Variant summary: c.7142C>A affects a non-conserved nucleotide, resulting in amino acid change from Pro to Gln. 4/5 in-silico tools predict this variant to be damaging. This variant was found in 1/121362 control chromosomes at a frequency of 0.0000082, which does not exceed the maximal expected frequency of a pathogenic allele (0.0007503). The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories nor was it evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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