ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) (rs4986844)

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Total submissions: 13
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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) RCV000111772 SCV000578000 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 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0052 (African), derived from ExAC (2014-12-17).
Invitae RCV000047711 SCV000075724 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000173831 SCV000167250 benign not specified 2013-11-04 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 RCV000162519 SCV000212913 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000111772 SCV000220557 likely benign Breast-ovarian cancer, familial 1 2014-07-30 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173831 SCV000224987 benign not specified 2014-10-07 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111772 SCV000267697 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476210 SCV000540965 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282997 SCV000602729 benign none provided 2019-12-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162519 SCV000683012 benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111772 SCV000144304 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173831 SCV000591370 benign not specified no assertion criteria provided clinical testing The p.Thr703Thr variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, and is also listed in the dbSNP database as coming from a "clinical source" (rs4986844) with a MAF score of 0.001. And it was identified in varying frequencies in various ethnic groups from the HapMap project. It was also reported in 20/111260 proband chromosomes of individuals from HBOC families, and classified as a polymorphism in the study by Myriad; although no control chromosomes were tested to establish the variant’s frequency in the general population (Judkins_2005). In addition, the variant was also identified in the UMD (x4), BIC (x2), Exome Server and BOCs databases. In summary, based on the above information, the variant is classified as predicted benign.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735514 SCV000863652 benign Breast and/or ovarian cancer 2012-08-27 no assertion criteria provided clinical testing

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