ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1625T>C (p.Ile542Thr) (rs397507273)

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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 RCV000222475 SCV000278478 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589631 SCV000694549 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1625T>C (p.Ile542Thr) variant involves the alteration of a non-conserved nucleotide and 3/5 in silico tools predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 1/121012 control chromosomes (ExAC) at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; 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 is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000031331 SCV000053936 uncertain significance Breast-ovarian cancer, familial 2 2009-03-27 no assertion criteria provided clinical testing

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