ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)

gnomAD frequency: 0.29170  dbSNP: rs1060915
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 30
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) RCV000112313 SCV000244710 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), 0.3588 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000112313 SCV000154003 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: 32.6 %.
Ambry Genetics RCV000128938 SCV000172812 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: 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 RCV000112313 SCV000195927 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-11-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000152866 SCV000202264 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152866 SCV000268808 benign not specified 2015-06-30 criteria provided, single submitter clinical testing p.Ser1436Ser in exon 12 of BRCA1: This variant is not expected to have clinical significance because it has been identified in 34.3% of chromosomes from all pop ulations by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs1060915).
PreventionGenetics, part of Exact Sciences RCV000152866 SCV000311796 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000112313 SCV000403058 benign Breast-ovarian cancer, familial, susceptibility to, 1 2018-01-12 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 RCV000311915 SCV000494325 benign Hereditary breast ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128938 SCV000537329 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114988 SCV000540958 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000152866 SCV000586897 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656630 SCV000602661 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000152866 SCV000693614 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000112313 SCV000743396 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 RCV000112313 SCV000744617 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000311915 SCV001000183 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 RCV000311915 SCV002025941 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000112313 SCV002097600 benign Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
Genetics Program, Instituto Nacional de Cancer RCV000311915 SCV002515210 benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002498475 SCV002808006 benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2021-11-09 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000112313 SCV004016740 benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112313 SCV000145052 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114988 SCV000148890 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000112313 SCV000189342 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 RCV000112313 SCV000733612 benign Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656630 SCV000778741 benign not provided 2016-12-07 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000152866 SCV001551759 benign not specified no assertion criteria provided clinical testing #N/A
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000152866 SCV001906097 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152866 SCV001954251 benign not specified no assertion criteria provided clinical testing

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.