ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.625C>T (p.Pro209Ser) (rs730881466)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159941 SCV000210079 uncertain significance not provided 2016-04-06 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.625C>T at the cDNA level, p.Pro209Ser (P209S) at the protein level, and results in the change of a Proline to a Serine (CCT>TCT). Using alternate nomenclature, this variant would be defined as BRCA1 744C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Pro209Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting 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 Pro209Ser occurs at a position that is not conserved and is located in a region known to interact with multiple proteins (Paul 2014). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Pro209Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000223566 SCV000273878 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing

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