ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4885del (p.Glu1629fs) (rs886040254)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657447 SCV000779182 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.4885delG at the cDNA level and p.Glu1629LysfsX4 (E1629KfsX4) at the protein level. The normal sequence, with the base that is deleted in brackets, is AATG[delG]AAGA. The deletion causes a frameshift which changes a Glutamic Acid to a Lysine at codon 1629, and creates a premature stop codon at position 4 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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