ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5303G>A (p.Cys1768Tyr) (rs730881497)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160002 SCV000210212 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5303G>A at the cDNA level, p.Cys1768Tyr (C1768Y) at the protein level, and results in the change of a Cysteine to a Tyrosine (TGC>TAC). Using alternate nomenclature, this variant would be defined as BRCA1 5422G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Cys1768Tyr was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Cysteine and Tyrosine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Cys1768Tyr occurs at a position that is conserved in mammals and is located in the BRCT2 domain and a region of interaction with multiple proteins (UniProt, Paul 2014). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA1 Cys1768Tyr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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