ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) (rs80356880)

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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) RCV000111781 SCV000244295 pathogenic Breast-ovarian cancer, familial 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 5 based on posterior probability = 1
Fulgent Genetics,Fulgent Genetics RCV000763401 SCV000894127 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; Fanconi anemia, complementation group S 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001378528 SCV001576113 likely pathogenic Hereditary breast and ovarian cancer syndrome 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 37 of the BRCA1 protein (p.Thr37Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast cancer (PMID: 19543972, 25823446, 28664506, 30564348). ClinVar contains an entry for this variant (Variation ID: 54131). This variant has been reported to affect BRCA1 protein function (PMID: 25823446, 27272900, 30209399). Based on a multifactorial likelihood algorithm using genetic data, this variant has been determined to have a high probability of being pathogenic (PMID: 21990134). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111781 SCV000144321 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000111781 SCV001242839 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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