ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) (rs55969723)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162521 SCV000212915 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031467 SCV000146388 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 RCV000768594 SCV000219336 likely benign Breast and/or ovarian cancer 2017-06-15 criteria provided, single submitter clinical testing
Color RCV000162521 SCV000683603 likely benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Counsyl RCV000031467 SCV000220847 likely benign Breast-ovarian cancer, familial 2 2014-10-29 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031467 SCV000744452 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120320 SCV000591894 benign not specified 2014-08-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000044368 SCV000257610 likely benign Hereditary breast and ovarian cancer syndrome 2015-06-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031467 SCV000244447 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 = 0.00000895
GeneDx RCV000120320 SCV000108614 likely benign not specified 2017-10-13 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.
ITMI RCV000120320 SCV000084472 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000044368 SCV000267844 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044368 SCV000494367 benign Hereditary breast and ovarian cancer syndrome 2014-04-22 criteria provided, single submitter clinical testing
Invitae RCV000044368 SCV000072381 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120320 SCV000538474 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.6% (60/9946) African; ClinVar: 7B/LB, 1 VUS
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656602 SCV000778672 likely benign not provided 2017-08-02 no assertion criteria provided clinical testing
Pathway Genomics RCV000031467 SCV000207342 likely benign Breast-ovarian cancer, familial 2 2014-11-06 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031467 SCV000054072 benign Breast-ovarian cancer, familial 2 2008-12-01 no assertion criteria provided clinical testing

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