ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)

gnomAD frequency: 0.29035  dbSNP: rs16940
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Total submissions: 31
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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) RCV000111822 SCV000244745 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.128 (African), 0.3536 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000111822 SCV000154000 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.4 %.
Ambry Genetics RCV000128982 SCV000172869 benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Michigan Medical Genetics Laboratories, University of Michigan RCV000111822 SCV000195902 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-11-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000152867 SCV000202270 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152867 SCV000311789 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000111822 SCV000403066 benign Breast-ovarian cancer, familial, susceptibility to, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000264575 SCV000494309 benign Hereditary breast ovarian cancer syndrome 2013-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128982 SCV000537331 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114985 SCV000540954 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000152867 SCV000586883 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656636 SCV000602664 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152867 SCV000605735 benign not specified 2016-12-02 criteria provided, single submitter clinical testing p.Leu771Leu in exon 10 of BRCA1: This variant is not expected to have clinical s ignificance because it has been identified in 50% (8241/16498) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs16940).
GeneKor MSA RCV000152867 SCV000693606 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000111822 SCV000743419 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000111822 SCV000744663 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000755639 SCV000883036 benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000264575 SCV001000186 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000264575 SCV002025984 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000111822 SCV002097605 benign Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
Genetics Program, Instituto Nacional de Cancer RCV000264575 SCV002515190 benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
Sema4, Sema4 RCV000128982 SCV002538107 benign Hereditary cancer-predisposing syndrome 2020-02-15 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000111822 SCV004016745 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111822 SCV000144376 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114985 SCV000148887 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000111822 SCV000189332 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000111822 SCV000733646 benign Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656636 SCV000778759 benign not provided 2016-12-07 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000152867 SCV001549015 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000152867 SCV001906343 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152867 SCV001956411 benign not specified no assertion criteria provided clinical testing

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