ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) (rs56019712)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589601 SCV000072998 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129413 SCV000184183 likely benign Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
GeneDx RCV000044985 SCV000210631 likely benign not specified 2017-08-29 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044985 SCV000600712 uncertain significance not specified 2017-02-09 criteria provided, single submitter clinical testing
Color RCV000129413 SCV000688987 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589601 SCV000694981 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6560C>T (p.Pro2187Leu) variant involves the alteration of a non-conserved nucleotide and 3/5 in silico tools predict benign outcome for this variant. However, these predictions have yet to be functionally assessed. This variant was found in 30/273390 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0008878 (30/33792). This frequency is comparable to the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple clinical diagnostic laboratories have cited the variant with conflicting classsifications "benign," "likely benign," or "uncertain significance." However, no evidences were provided for an independent evaluation. Because of the limited 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) RCV000031634 SCV000054241 benign Breast-ovarian cancer, familial 2 2011-11-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031634 SCV000146884 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761099 SCV000891014 uncertain significance Acute myeloid leukemia 2016-11-07 no assertion criteria provided clinical testing

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