ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)

gnomAD frequency: 0.00011  dbSNP: rs41286300
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Total submissions: 27
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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) RCV000083186 SCV000244325 benign Breast-ovarian cancer, familial, susceptibility to, 1 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 = 0.0000000000000163
Invitae RCV001083999 SCV000075905 benign Hereditary breast ovarian cancer syndrome 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162682 SCV000213134 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000083186 SCV000220740 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-09-26 criteria provided, single submitter literature only
Eurofins Ntd Llc (ga) RCV000120284 SCV000224994 benign not specified 2014-09-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000120284 SCV000538443 uncertain significance not specified 2016-03-29 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: 2/16502 South Asian chromosomes; ClinVar: 9 labs classify as B/LB
Baylor Genetics RCV000468496 SCV000540961 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034734 SCV000602674 benign not provided 2020-06-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162682 SCV000683049 likely benign Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000083186 SCV000743413 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000083186 SCV000744652 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-09-21 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000034734 SCV000806921 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083186 SCV001280880 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2018-05-01 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.
Sema4, Sema4 RCV000162682 SCV002538138 likely benign Hereditary cancer-predisposing syndrome 2021-05-27 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000120284 SCV002551015 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490465 SCV002796249 benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2022-01-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000083186 SCV004016792 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034734 SCV000043174 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
ITMI RCV000120284 SCV000084436 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000083186 SCV000115260 benign Breast-ovarian cancer, familial, susceptibility to, 1 2008-08-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083186 SCV000144486 benign Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000120284 SCV000587235 benign not specified 2014-01-31 no assertion criteria provided research
Mayo Clinic Laboratories, Mayo Clinic RCV000034734 SCV000778753 benign not provided 2017-04-25 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735451 SCV000863588 likely pathogenic Breast and/or ovarian cancer no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000120284 SCV001553263 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120284 SCV001956737 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000120284 SCV002036219 benign not specified no assertion criteria provided clinical testing

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