ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) (rs80358980)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130690 SCV000185577 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113773 SCV000147115 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130690 SCV000683885 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000113773 SCV000220890 likely benign Breast-ovarian cancer, familial 2 2014-11-14 criteria provided, single submitter literature only
GeneDx RCV000212260 SCV000210428 likely benign not specified 2017-10-26 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 RCV000590730 SCV000695076 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7534C>T (p.Leu2512Phe) variant involves the alteration of a conserved nucleotide and is located at helical domain of the BRCA2 protein. 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 5/120880 control chromosomes from ExAC at a frequency of 0.0000414, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), thus it is uncertain whether or not it is a rare polymorphism. This variant has been reported in literature and clinical databases in several individuals undergoing for BRCA1/2 testing or diagnosed with Breast and/or Ovarian Cancer. In at least 13 individuals, another deleterious variant in BRCA1/2 gene was not identified (UMD, BIC). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as uncertain significance. Taken together, this variant is currently classified as Variant of Uncertain Significance.
Invitae RCV000045239 SCV000073252 benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212260 SCV000600754 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113773 SCV000297553 uncertain significance Breast-ovarian cancer, familial 2 2006-10-17 no assertion criteria provided clinical testing

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