ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) (rs786201784)

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Total submissions: 10
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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) RCV000494859 SCV000578257 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/).
Ambry Genetics RCV000164252 SCV000214876 likely benign Hereditary cancer-predisposing syndrome 2015-02-13 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000589951 SCV000224998 uncertain significance not provided 2015-01-29 criteria provided, single submitter clinical testing
Invitae RCV000226901 SCV000289769 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000589951 SCV000321425 uncertain significance not provided 2016-03-04 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3012G>A at the DNA level. This variant is silent at the coding level, preserving a Glutamic Acid at codon 1004. Using alternate nomenclature, this variant would be defined as BRCA1 3131G>A. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.3012G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 3012, is conserved in mammals. Based on currently available information, it is unclear whether BRCA1 c.3012G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855612 SCV000698997 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Mendelics RCV000226901 SCV000839263 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589951 SCV000887655 likely benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164252 SCV000909325 likely benign Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
Mendelics RCV000494859 SCV001140566 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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