ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.353G>A (p.Arg118His) (rs80358603)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677866 SCV000804027 uncertain significance Cancer of the pancreas 2018-05-21 no assertion criteria provided clinical testing
Ambry Genetics RCV000164685 SCV000215352 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 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) RCV000031426 SCV000146639 uncertain significance Breast-ovarian cancer, familial 2 1999-01-15 no assertion criteria provided clinical testing
Color RCV000164685 SCV000903091 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000200972 SCV000210235 likely benign not specified 2016-09-20 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 RCV000587352 SCV000694702 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing
Invitae RCV000044218 SCV000072231 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 118 of the BRCA2 protein (p.Arg118His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs80358603, ExAC 0.01%). This variant has been reported in an individual affected with esophageal cancer (PMID: 11948123). ClinVar contains an entry for this variant (Variation ID: 37845). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000044218 SCV000838729 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000200972 SCV000600555 uncertain significance not specified 2017-06-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031426 SCV000054031 uncertain significance Breast-ovarian cancer, familial 2 2008-02-11 no assertion criteria provided clinical testing

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