ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3626_3627del (p.Phe1209fs) (rs587782861)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167290 SCV000218133 pathogenic Hereditary cancer-predisposing syndrome 2016-03-11 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)
Color RCV000167290 SCV000911667 pathogenic Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000235460 SCV000293064 pathogenic not provided 2016-03-14 criteria provided, single submitter clinical testing This deletion of two nucleotides in ATM is denoted c.3626_3627delTT at the cDNA level and p.Phe1209TyrfsX19 (F1209YfsX19) at the protein level. The normal sequence, with the bases that are deleted in braces, is GACT[TT]ATGG. The deletion causes a frameshift, which changes a Phenylalanine to a Tyrosine at codon 1209, and creates a premature stop codon at position 19 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM c.3626_3627delTT, previously reported as c.3625delTT, has been observed in two cases of ataxia-telangiectasia, once in the homozygous state and once in the presumed compound heterozygous state (Magliozzi 2006, Teraoka 1999). We consider this variant to be pathogenic.
Invitae RCV000628123 SCV000749016 pathogenic Ataxia-telangiectasia syndrome 2018-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1209Tyrfs*19) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ataxia-telangiectasia (PMID: 10330348). ClinVar contains an entry for this variant (Variation ID: 187552). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.