ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.807G>A (p.Leu269=) (rs149867679)

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Total submissions: 9
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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) RCV000409357 SCV000578001 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 0.0012 (African), derived from ExAC (2014-12-17).
GeneDx RCV000123890 SCV000167236 benign not specified 2014-02-21 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 RCV000162520 SCV000212914 likely benign Hereditary cancer-predisposing syndrome 2014-06-03 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.
Invitae RCV001084959 SCV000252823 benign Hereditary breast and ovarian cancer syndrome 2020-11-25 criteria provided, single submitter clinical testing
Counsyl RCV000409357 SCV000488501 likely benign Breast-ovarian cancer, familial 1 2016-04-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463712 SCV000540983 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162520 SCV000688665 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758848 SCV000887735 benign not provided 2019-05-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123890 SCV000591302 benign not specified no assertion criteria provided clinical testing The p.Leu269Leu 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 listed in dbSNP database (rs149867679) with a MAF score of 0.001. It was also reported in 1/111260 proband chromosomes of an individual from a HBOC family, 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 (x1), Exome Server and BOCs databases. In summary, based on the above information, the variant is classified as benign.

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