ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg) (rs80358566)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129622 SCV000184415 likely benign Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000031409 SCV000146193 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129622 SCV000902935 likely benign Hereditary cancer-predisposing syndrome 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000031409 SCV000488158 uncertain significance Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000074524 SCV000108609 likely benign not specified 2018-01-23 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 RCV000588491 SCV000694677 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3218A>G (p.Gln1073Arg) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict benign outcome for this variant. This variant was found in 6/119496 control chromosomes from ExAC at a frequency of 0.0000502, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been found in multiple patients with breast and/or ovarian cancer, prostate cancer, urothelial cancer and uterine cancer (Alsop_2012, Lu_2012, Maier_2014, Rodriguez-Vida_2014. Lu_2015); however, no strong evidence for or against pathogenicity is present. Functional studies show that this variant alters the BRCA2-APRIN interaction independently of the BRC1-RAD51 interaction and homologous recombination (Brough_2012). Clinical diagnostic laboratories/reputable databases have classified this variant as likely benign (3) as well as uncertain significance (4). Taken together, this variant is classified as Variant of Unknown Significance.
Invitae RCV000044150 SCV000072163 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031409 SCV000054014 likely benign Breast-ovarian cancer, familial 2 2013-03-18 no assertion criteria provided clinical testing

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