ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) (rs56172926)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131282 SCV000186251 likely benign Hereditary cancer-predisposing syndrome 2017-12-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077370 SCV000146823 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131282 SCV000683771 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000077370 SCV000786130 uncertain significance Breast-ovarian cancer, familial 2 2018-03-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077370 SCV000744485 likely benign Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044901 SCV000592041 benign not specified 2013-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000044901 SCV000210626 likely benign not specified 2017-12-19 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077370 SCV000743317 likely benign Breast-ovarian cancer, familial 2 2015-01-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590013 SCV000694961 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6317T>C (p.Leu2106Pro) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 10/119856 control chromosomes at a frequency of 0.0000834, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been reported in the literature, without strong evidence for causality. Additionally, the variant co-occurred with a pathogenic BRCA2 variant (UMD) suggesting the benign role of this variant in disease. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000167835 SCV000072914 benign Hereditary breast and ovarian cancer syndrome 2017-12-12 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044901 SCV000587834 benign not specified 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077370 SCV000109167 benign Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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