ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2929C>T (p.Pro977Ser) (rs1064794043)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486609 SCV000567662 uncertain significance not provided 2015-08-10 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2929C>T at the cDNA level, p.Pro977Ser (P977S) at the protein level, and results in the change of a Proline to a Serine (CCA>TCA). Using alternate nomenclature, this variant would be defined as BRCA1 3048C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Pro977Ser 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 Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Pro977Ser occurs at a position that is not conserved and is located within the RAD51 binding domain (Chen 1998). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA1 Pro977Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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