ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)

gnomAD frequency: 0.30784  dbSNP: rs16942
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 36
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112115 SCV000244342 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 = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30).
Breakthrough Genomics, Breakthrough Genomics RCV000034742 SCV005251058 benign not provided criteria provided, single submitter not provided
All of Us Research Program, National Institutes of Health RCV004803115 SCV004817790 benign BRCA1-related cancer predisposition 2024-10-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000112115 SCV004016741 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490466 SCV002802805 benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2022-05-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000128991 SCV002538216 benign Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter curation
Genetics Program, Instituto Nacional de Cancer RCV000048229 SCV002515199 benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000112115 SCV002097602 benign Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000048229 SCV002025955 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000460753 SCV001251942 benign Familial cancer of breast 2020-05-03 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000770891 SCV000899177 benign Breast carcinoma 2019-04-22 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112115 SCV000744632 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000112115 SCV000743405 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-10-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120278 SCV000693612 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000120278 SCV000605733 benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it has been i dentified in 50% (8252/16506) of South Asian, including 2129 homozygotes, and 39 % (2602/66384) of European chromosomes, including 3592 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPrs16942). I n addition, this variant was classified as benign on August 10, 2015 by the Clin Gen- approved ENIGMA expert panel (ClinVar SCV000244342.1)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034742 SCV000602662 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000120278 SCV000586893 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000460753 SCV000540957 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000048229 SCV000494319 benign Hereditary breast ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000112115 SCV000403059 benign Breast-ovarian cancer, familial, susceptibility to, 1 2018-03-06 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.
PreventionGenetics, part of Exact Sciences RCV000120278 SCV000311795 benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128991 SCV000292080 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000120278 SCV000202266 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories, University of Michigan RCV000112115 SCV000195921 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128991 SCV000172884 benign Hereditary cancer-predisposing syndrome 2015-11-13 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.
Counsyl RCV000112115 SCV000154008 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 %.
Labcorp Genetics (formerly Invitae), Labcorp RCV000048229 SCV000076242 benign Hereditary breast ovarian cancer syndrome 2025-02-04 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120278 SCV001959074 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000120278 SCV001905718 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000120278 SCV001553628 benign not specified no assertion criteria provided clinical testing #N/A
Mayo Clinic Laboratories, Mayo Clinic RCV000034742 SCV000778745 benign not provided 2015-10-02 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112115 SCV000733625 benign Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112115 SCV000189339 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112115 SCV000144787 benign Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing
ITMI RCV000120278 SCV000084430 not provided not specified 2013-09-19 no assertion provided reference population
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034742 SCV000043166 benign not provided 2012-07-13 no assertion criteria provided research Converted during submission from no known pathogenicity to Benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.