ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373fs) (rs398122682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484969 SCV000571906 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing This insertion of two nucleotides in BRCA1 is denoted c.4116_4117insTT at the cDNA level and p.Glu1373LeufsX21 (E1373LfsX21) at the protein level. The normal sequence, with the bases that are inserted in braces, is GTGT[TT]GAGA. The insertion causes a frameshift which changes a Glutamic Acid to a Leucine at codon 1373, and creates a premature stop codon at position 21 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.
Sharing Clinical Reports Project (SCRP) RCV000077141 SCV000108938 pathogenic Breast-ovarian cancer, familial 1 2008-12-03 no assertion criteria provided clinical testing

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