ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2754_2755insGGGTG (p.Pro919fs) (rs1064793468)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482002 SCV000566195 pathogenic not provided 2015-04-06 criteria provided, single submitter clinical testing This insertion of 5 nucleotides in BRCA1 is denoted c.2754_2755insGGGTG at the cDNA level and p.Pro919GlyfsX83 (P919GfsX83) at the protein level. This insertion is also known as BRCA1 2873insGGGTG using alternate nomenclature. The normal sequence, with the bases that are inserted in brackets, is CAAG[GGGTG]CCTG. The insertion causes a frameshift, which changes a Proline to a Glycine at codon 919, and creates a premature stop codon at position 83 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.

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