ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.591C>T (p.Cys197=) (rs1799965)

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Total submissions: 26
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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) RCV000112746 SCV000577992 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.04; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0018 (Non-Finnish European), 0.0068 (Finnish), derived from ExAC (2014-12-17).
Invitae RCV000049065 SCV000077078 benign Hereditary breast and ovarian cancer syndrome 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000112746 SCV000154027 likely benign Breast-ovarian cancer, familial 1 2014-03-17 criteria provided, single submitter literature only
GeneDx RCV000168484 SCV000167232 benign not specified 2013-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000131013 SCV000185939 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000112746 SCV000195885 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735462 SCV000219193 benign Breast and/or ovarian cancer 2017-06-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000168484 SCV000232716 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168484 SCV000246805 benign not specified 2019-04-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415785 SCV000493690 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168484 SCV000538440 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.6% (45/6615) Finnish chromosomes; ClinVar: 7 labs classify as B/LB
Color Health, Inc RCV000131013 SCV000683339 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000415785 SCV000806979 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Mendelics RCV000049065 SCV000839300 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282242 SCV000885077 benign none provided 2020-08-07 criteria provided, single submitter clinical testing
Mendelics RCV000112746 SCV001140629 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112746 SCV001284089 likely benign Breast-ovarian cancer, familial 1 2018-01-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute of Human Genetics, University of Leipzig Medical Center RCV000112746 SCV001440661 benign Breast-ovarian cancer, familial 1 2019-01-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112746 SCV000145632 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112746 SCV000189349 benign Breast-ovarian cancer, familial 1 2011-03-15 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000168484 SCV000587065 benign not specified 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353617 SCV000591288 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Cys197Cys variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been previously identified by our laboratory and has been reported as a benign variant. It has also been reported in the literature in 35 out of 5616 proband chromosomes of individuals from families with hereditary breast and ovarian cancers, and was classified as a variant of benign significance or as a polymorphism; it was also found in 6 out of 1964 control chromosomes (Bergthorsson_2001_11389159, Diez_2003_12955716, Dosil_2010_19892845, Ladopoulou_2002_10980541, McKean-Cowdin_2005_15726418, Stegel_2011_21232165, Takahashi_1995_7606717). In addition, this variant is listed in the UMD mutation database as a neutral variant and observed to co-occur with other BRCA1 pathogenic mutations: c.4327C>T (p.Arg1443X), c.5123C>A (p.Ala1708Glu), c.68_69delAG (p.Glu23ValfsX17), c.IVS6-1G>A (c.302-1G>A), increasing the likelihood that the p.Cys179Cysvariant does not have any clinical significance. This variant is listed in the dbSNP database as coming from a "clinical source" (ID#:rs1799965) but no frequency information was provided, and so the prevalence of this variant in the population is not known. In addition, Myriad classifies this variant as a polymorphism (personal communication). In summary, based on the above information, the p.Cys197Cys variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112746 SCV000733667 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000415785 SCV000778775 likely benign not provided 2017-05-31 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131013 SCV000787912 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735462 SCV000863599 benign Breast and/or ovarian cancer 2012-06-08 no assertion criteria provided clinical testing

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