ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) (rs80358443)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000240762 SCV000804016 likely benign Neoplasm of the breast 2018-05-21 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677856 SCV000804017 likely benign Cancer of the pancreas 2018-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132044 SCV000187104 likely benign Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Color RCV000132044 SCV000537501 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160205 SCV000591754 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000082887 SCV000575722 uncertain significance Breast-ovarian cancer, familial 2 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000160205 SCV000210563 likely benign not specified 2018-02-28 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 RCV000590104 SCV000694546 likely benign not provided 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1568A>G (p.His523Arg) variant causes a missense change involving a non-conserved nucleotide, which 3/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large and broad control population of ExAC with an allele frequency of 15/120500 (1/8032), predominant in the East Asian cohort with an allele freqency of 13/8636 (1/664). This frequency in East Asian cohort exceeds the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333, suggesting this is likely a benign polymorphism found primarily in population(s) of East Asian origin. The variant has been reported in patients and controls in the literature, mainly of Asian ancestry, without strong evidence for pathogenicity. One patient was reported to have co-occurrence with a pathogenic variant in BRCA2 c.2175dup (Dong_2015). In addition, multiple clinical diagnostic laboratories cite the variant as "likely benign." Therefore, the variant of interest has been classified as "Likely Benign."
Invitae RCV000227598 SCV000283170 benign Hereditary breast and ovarian cancer syndrome 2017-12-23 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240762 SCV000265928 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590104 SCV000888982 likely benign not provided 2018-03-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082887 SCV000114961 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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