ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) (rs55815649)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656628 SCV000885073 benign not provided 2018-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162668 SCV000213115 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112362 SCV000145125 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162668 SCV000902629 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Counsyl RCV000112362 SCV000220303 benign Breast-ovarian cancer, familial 1 2014-05-10 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112362 SCV000744612 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120259 SCV000591527 benign not specified 2014-09-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120259 SCV000202263 benign not specified 2014-04-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112362 SCV000244363 benign Breast-ovarian cancer, familial 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 = 0.000000000074
Genetic Services Laboratory, University of Chicago RCV000120259 SCV000593658 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
ITMI RCV000120259 SCV000084411 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000195319 SCV000494388 benign Hereditary breast and ovarian cancer syndrome 2014-05-02 criteria provided, single submitter clinical testing Variant summary: (1) Variant is found in a non-conserved region with a high prevalence in control individuals (22/7,595), (2) Variant is reported to co-occur with other potentially pathogenic variants in BRCA1 (p.Glu1413AspfsX2, 2 - p.Gln1240X) and 1 BRCA2 (p.Ile1874ArgfsX34)(UMD), (3) Functional studies suggest comparable activity levels to wild type (Carvalho_BRCA1_CR_2007) and (4) multiple databases and publications classify variant as benign/neutral (Emory genetics, UMD, ARUP, Easton_2007, Carvalho_2007, Chenevix-Trench_2006 and Lindor_2012) .
Invitae RCV000195319 SCV000076615 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120259 SCV000538431 benign 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: 0.5% (52/10406) African chromosomes; ClinVar: 2 labs classify as LB; 5 papers describe as nonpathogenic
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656628 SCV000778737 benign not provided 2017-03-31 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112362 SCV000267713 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120259 SCV000806954 benign not specified 2017-01-10 criteria provided, single submitter clinical testing

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