ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8501C>G (p.Thr2834Arg) (rs1555287733)

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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 RCV000587539 SCV000695160 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8501C>G affects a non-conserved nucleotide, resulting in an amino acid change from Thr to Arg. 5/5 in-silico tools predict this variant to be damaging. This variant was not found in 121298 control chromosomes. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of 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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