ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5160C>G (p.Thr1720=)

gnomAD frequency: 0.00001  dbSNP: rs376736915
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Total submissions: 3
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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) RCV000495081 SCV000578295 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/).
Invitae RCV003530053 SCV004321250 likely benign Hereditary breast ovarian cancer syndrome 2023-09-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584633 SCV004360127 likely benign Hereditary cancer-predisposing syndrome 2023-07-17 criteria provided, single submitter clinical testing

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