ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2964A>G (p.Ser988=) (rs1064796061)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478297 SCV000572454 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2964A>G at the DNA level. This variant is silent at the coding level, preserving a Serine at codon 988. It is not predicted to cause abnormal splicing. Also defined as BRCA1 3083A>G, using alternate nomenclature, this variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.2964A>G 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. The nucleotide which is altered, an adenine (A) at base 2964, is conserved across species. Based on currently available evidence, it is unclear whether BRCA1 c.2964A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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