ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5784dup (p.Asn1929Ter) (rs1131691254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569870 SCV000665568 pathogenic Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000493709 SCV000581708 not provided not provided no assertion provided clinical testing This duplication of one nucleotide is denoted ATM c.5784dupT at the cDNA level and p.Asn1929Ter (N1929X) at the protein level. The normal sequence, with the base that is duplciated in brackets, is ATTTT[T]AATG. The duplication creates a nonsense variant, which changes an Asparagine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.

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