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

gnomAD frequency: 0.29170  dbSNP: rs1060915

Total submissions: 31

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV000656630	SCV005251050	benign	not provided		criteria provided, single submitter	not provided
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