ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5014C>T (p.His1672Tyr) (rs587781477)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129426 SCV000184196 likely benign Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV000793966 SCV000933347 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-04-23 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1672 of the BRCA1 protein (p.His1672Tyr). The histidine residue is weakly 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. ClinVar contains an entry for this variant (Variation ID: 141076). This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). 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.
Brotman Baty Institute,University of Washington RCV001077924 SCV001243933 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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