ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.804G>A (p.Gly268=) (rs147448807)

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Total submissions: 11
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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) RCV000495241 SCV000578224 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000174120 SCV000167300 benign not specified 2014-02-25 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 RCV000162559 SCV000212969 likely benign Hereditary cancer-predisposing syndrome 2014-06-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174120 SCV000225365 likely benign not specified 2014-09-26 criteria provided, single submitter clinical testing
Invitae RCV000198974 SCV000252816 benign Hereditary breast and ovarian cancer syndrome 2018-01-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000460094 SCV000540980 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000174120 SCV000591490 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000174120 SCV000602718 likely benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Color RCV000162559 SCV000683151 likely benign Hereditary cancer-predisposing syndrome 2015-07-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174120 SCV000806943 benign not specified 2017-07-14 criteria provided, single submitter clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000198974 SCV000916349 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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