ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) (rs80359143)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128971 SCV000172856 likely benign Hereditary cancer-predisposing syndrome 2018-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000031777 SCV000147488 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 RCV000770734 SCV000902215 uncertain significance Breast and/or ovarian cancer 2016-12-08 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761134 SCV000891050 uncertain significance Neuroblastoma 2017-04-03 no assertion criteria provided clinical testing
Color RCV000128971 SCV000537482 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000587937 SCV000210676 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8918G>A at the cDNA level, p.Arg2973His (R2973H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant, also known as BRCA2 9146G>A using alternate nomenclature, has been observed in at least one individual with breast cancer, two with ovarian cancer, and another defined as being at risk for hereditary breast cancer (Pal 2005, Morgan 2010, Alsop 2012, Fackenthal 2012). BRCA2 Arg2973His was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Arg2973His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000587937 SCV000695192 likely benign not provided 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000195384 SCV000073671 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505714 SCV000600831 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587937 SCV000887947 likely benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031777 SCV000054385 likely benign Breast-ovarian cancer, familial 2 2013-11-05 no assertion criteria provided clinical testing

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