ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) (rs1555579648)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637812 SCV000759291 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1686 of the BRCA1 protein (p.His1686Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant has been reported to affect BRCA1 protein function (PMID: 30209399). This variant disrupts the p.His1686 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25452441, 23867111, 18757339, 12496477, 30209399). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing 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.
Fulgent Genetics,Fulgent Genetics RCV000765358 SCV000896623 uncertain significance 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
Color RCV001186735 SCV001353312 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-20 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001076299 SCV001242019 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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