Submissions for variant NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)

gnomAD frequency: 0.00301  dbSNP: rs55688530

Total submissions: 34

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077630	SCV000244407	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 = 0.00000000000782. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30).
Invitae	RCV000049057	SCV000077070	benign	Hereditary breast ovarian cancer syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000224107	SCV000167230	benign	not provided	2018-11-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17924331, 16014699, 24055113, 25637381, 21990134, 22505045, 21673748, 26332594, 24728327, 19298662, 15726418, 11030417, 23867111, 17333343, 29356034, 33087888)
CSER _CC_NCGL, University of Washington	RCV000049057	SCV000190101	likely benign	Hereditary breast ovarian cancer syndrome	2014-06-01	criteria provided, single submitter	research
Ambry Genetics	RCV000162532	SCV000212932	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: 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	RCV000077630	SCV000221134	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-02-13	criteria provided, single submitter	literature only
Eurofins Ntd Llc (ga)	RCV000120269	SCV000232715	benign	not specified	2014-07-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120269	SCV000246804	benign	not specified	2021-08-24	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000162532	SCV000267012	likely benign	Hereditary cancer-predisposing syndrome	2016-02-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224107	SCV000280842	uncertain significance	not provided	2015-08-24	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000049057	SCV000297229	uncertain significance	Hereditary breast ovarian cancer syndrome	2015-09-24	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000470710	SCV000540967	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162532	SCV000683337	benign	Hereditary cancer-predisposing syndrome	2014-11-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224107	SCV000883463	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000077630	SCV001140630	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2019-05-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170826	SCV001333445	likely benign	Breast and/or ovarian cancer	2023-01-03	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV000049057	SCV002026020	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Genetics Program, Instituto Nacional de Cancer	RCV000049057	SCV002515132	benign	Hereditary breast ovarian cancer syndrome	2021-11-01	criteria provided, single submitter	research
Sema4, Sema4	RCV000162532	SCV002537874	likely benign	Hereditary cancer-predisposing syndrome	2021-03-22	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000224107	SCV004009801	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	BRCA1: PM5, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000077630	SCV004016768	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120269	SCV004242848	benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
ITMI	RCV000120269	SCV000084421	not provided	not specified	2013-09-19	no assertion provided	reference population
Sharing Clinical Reports Project (SCRP)	RCV000077630	SCV000109433	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2006-07-03	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000077630	SCV000145628	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2002-05-29	no assertion criteria provided	clinical testing
Pathway Genomics	RCV000077630	SCV000189879	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-07-24	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001353515	SCV000591285	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000077630	SCV000733669	benign	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000224107	SCV000778776	likely benign	not provided	2015-10-07	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000120269	SCV001905691	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000120269	SCV001954173	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000120269	SCV001975676	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000120269	SCV002036695	benign	not specified		no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000077630	SCV004244158	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2020-03-02	no assertion criteria provided	clinical testing