ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2295G>A (p.Glu765=)

gnomAD frequency: 0.00001  dbSNP: rs201875054
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Total submissions: 5
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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) RCV000495466 SCV000578233 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000165026 SCV000215723 likely benign Hereditary cancer-predisposing syndrome 2014-06-25 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.
Color Diagnostics, LLC DBA Color Health RCV000165026 SCV000683023 likely benign Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000876277 SCV001018833 likely benign Hereditary breast ovarian cancer syndrome 2023-03-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500291 SCV000591377 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Glu765Glu 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. This variant was not identified in the literature and was identified in only one public database: the 1000 genomes project (dbSNP ID:rs201875054), although there was only one observation and so the prevalence of this variant in the general population cannot be determined without further validation. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.

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