ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7499G>C (p.Arg2500Thr) (rs80358976)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129357 SCV000184121 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031682 SCV000147107 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
GeneDx RCV000045232 SCV000210651 likely benign not specified 2017-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590051 SCV000695070 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7499G>C (p.Arg2500Thr) variant causes a missense change involving a non-conserved nucleotide with 3/5 in silico tools predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. Although, multiple reputable databases/clinical laboratories cite the variant with conflicting classifications from "benign to uncertain significance" with no information provided to allow for an independent assessment. Threfore, due to the limited available information (ie lack of clinical and functional studies), the variant of interest is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV000203647 SCV000073245 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031682 SCV000054289 benign Breast-ovarian cancer, familial 2 2012-05-15 no assertion criteria provided clinical testing

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