ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3307_3308insC (p.Cys1103fs) (rs1555587988)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657355 SCV000779087 pathogenic not provided 2017-07-27 criteria provided, single submitter clinical testing This insertion of one nucleotide in BRCA1 is denoted c.3307_3308insC at the cDNA level and p.Cys1103SerfsX2 (C1103SfsX2) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3426_3427insC. The normal sequence, with the base that is inserted in brackets, is AATT[insC]GTAA. The insertion causes a frameshift which changes a Cysteine to a Serine at codon 1103, and creates a premature stop codon at position 2 of the new reading frame. It is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3307_3308insC has been reported in at least one individual with epithelial ovarian cancer (Plaskocinska 2016). We consider this variant to be pathogenic.

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