ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1393_788-1390del (rs1555588385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657425 SCV000779160 pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA1 is denoted c.3106_3109delTTTA at the cDNA level and p.Phe1036LysfsX11 (F1036KfsX11) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TGTT[delTTTA]AAGA. The deletion causes a frameshift which changes a Phenylalanine to a Lysine at codon 1036, and creates a premature stop codon at position 11 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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