ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) (rs56328701)

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Total submissions: 28
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083088 SCV001161606 benign Breast-ovarian cancer, familial 2 2019-06-18 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 = 0.000066
Invitae RCV000043882 SCV000071895 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000083088 SCV000154038 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
Ambry Genetics RCV000131138 SCV000186074 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000083088 SCV000195962 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000120309 SCV000210568 benign not specified 2015-02-19 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768622 SCV000219305 benign Breast and/or ovarian cancer 2016-03-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120309 SCV000224768 likely benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292009 SCV000383635 likely benign Fanconi anemia, complementation group D1 2018-08-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000083088 SCV000383636 likely benign Breast-ovarian cancer, familial 2 2018-08-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000120309 SCV000538484 uncertain significance 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: 0.1% (45/65250) European; ClinVar: 5 LB, 3 B
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120309 SCV000586930 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120309 SCV000591765 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514736 SCV000610856 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Color RCV000131138 SCV000683446 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083088 SCV000743263 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083088 SCV000744414 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120309 SCV000805655 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514736 SCV000885088 likely benign not provided 2017-09-06 criteria provided, single submitter clinical testing The BRCA2 c.1786G>C;p.Asp596His variant has been listed as likely benign or of no clinical significance in at least two publications (Maxwell 2016, Minucci 2015). The variant is listed as likely benign by several sources in the ClinVar database (Variation ID: 51192). The variant is listed in the dbSNP variant database (rs56328701) with an allele frequency of 0.0385 percent (5/12995 alleles) in the Exome Variant Server and 0.03235 percent (88/272064 alleles) in the Genome Aggregation Consortium. The amino acid at this position is not well conserved across species and computational algorithms (AlignGVGD, SIFT, MutationTaster) predict this variant is tolerated. Considering available information, this variant is classified as likely benign. References: Maxwell KN et al. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 May 5;98(5):801-17. Minucci A et al. Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review. Expert Rev Mol Diagn. 2015;15(10):1383-403.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514736 SCV000892063 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000514736 SCV001133693 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000083088 SCV001139009 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120309 SCV000084461 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000083088 SCV000115162 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083088 SCV000145933 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CSER _CC_NCGL, University of Washington RCV000148417 SCV000190116 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083088 SCV000733233 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514736 SCV000778646 benign not provided 2017-04-20 no assertion criteria provided clinical testing

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