ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2148T>A (p.Ser716Arg) (rs730881478)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159964 SCV000210122 uncertain significance not provided 2014-08-25 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2148T>A at the cDNA level, p.Ser716Arg (S716R) at the protein level, and results in the change of a Serine to an Arginine (AGT>AGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Ser716Arg 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 Serine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Ser716Arg occurs at a position that is variable across species with Arginine being the naturally occuring amino acid at this position in other mammals and is located in the DNA binding domain (Narod 2004). 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 Ser716Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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