ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)

dbSNP: rs80357428
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048926 SCV000076939 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 20516115, 30209399, 30765603). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1773 of the BRCA1 protein (p.Thr1773Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 30287823, 31159747). ClinVar contains an entry for this variant (Variation ID: 55522). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function.
Ambry Genetics RCV000509679 SCV000607846 likely benign Hereditary cancer-predisposing syndrome 2021-08-30 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.
GeneKor MSA RCV000509679 SCV000821929 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000509679 SCV000908984 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001770069 SCV001992459 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer and in healthy controls (Momozawa 2018); Also known as 5437C>T; This variant is associated with the following publications: (PMID: 30209399, 31159747, 20516115, 30287823, 28781887, 30765603)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000496809 SCV004242799 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077614 SCV000109417 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2008-05-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077614 SCV000145450 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496809 SCV000587491 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Brotman Baty Institute, University of Washington RCV000077614 SCV001238518 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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