ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro)

gnomAD frequency: 0.00001  dbSNP: rs80357314
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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) RCV000031202 SCV000244377 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000389
Labcorp Genetics (formerly Invitae), Labcorp RCV001081025 SCV000076744 likely benign Hereditary breast ovarian cancer syndrome 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000758838 SCV000209982 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28283652, 17308087, 20378548, 14534301, 20516115, 26727311, 21447777, 15172985, 24489791, 30209399)
Ambry Genetics RCV000221221 SCV000278635 benign Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758838 SCV000887707 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221221 SCV001358819 likely benign Hereditary cancer-predisposing syndrome 2019-04-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000031202 SCV004817606 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-10-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031202 SCV000053802 benign Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031202 SCV000145255 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000031202 SCV001243345 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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