ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.80G>C (p.Cys27Ser) (rs1064793052)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480934 SCV000564709 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.80G>C at the cDNA level, p.Cys27Ser (C27S) at the protein level, and results in the change of a Cysteine to a Serine (TGT>TCT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Cys27Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Cysteine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Cys27Ser occurs at a position that is well conserved across mammals and is located in the RING-finger domain (Narod 2004). 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 Cys27Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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