ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) (rs56404215)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163001 SCV000213489 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113037 SCV000146039 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769687 SCV000901100 likely benign Breast and/or ovarian cancer 2017-04-28 criteria provided, single submitter clinical testing
Color RCV000163001 SCV000910796 benign Hereditary cancer-predisposing syndrome 2017-02-03 criteria provided, single submitter clinical testing
Counsyl RCV000113037 SCV000220561 likely benign Breast-ovarian cancer, familial 2 2014-07-30 criteria provided, single submitter literature only
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113037 SCV000244430 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00008
GeneDx RCV000043986 SCV000210577 likely benign not specified 2017-01-05 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 RCV000589683 SCV000694606 likely benign not provided 2016-11-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2416G>C (p.Asp806His) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools used predict a benign outcome for this variant. This variant was found in 1/120450 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has been reported in affected individuals in literature and clinical databases, including co-occurrence with other pathogenic variants such as BRCA2 c.517-2A>G in an internal LCA sample, BRCA1 c.5080G>T/p.Glu1694X and BRCA1 c.2457delC/p.Ser819fsX25. In addition, multiple publications (such as Lindor_2012 and Easton_2007), reputable databases and clinical laboratories report the variant as "likely benign/benign." Taken together, this variant is classified as likely benign until more evidence becomes available.
Invitae RCV000195326 SCV000071999 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000043986 SCV000600511 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589683 SCV000887774 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000043986 SCV000587632 benign not specified 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000113037 SCV000297511 benign Breast-ovarian cancer, familial 2 2011-11-29 no assertion criteria provided clinical testing

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