ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.387del (p.Asp130fs) (rs745642834)

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
GeneDx RCV000255124 SCV000322627 likely pathogenic not provided 2016-07-08 criteria provided, single submitter clinical testing This deletion of one nucleotides in ATM is denoted c.387delA at the cDNA level and p.Asp130IlefsX23 (D130IfsX23) at the protein level. The surrounding sequence, with the base that is deleted in braces, is TGAA[A]GATT. The deletion causes a frameshift which changes an Aspartic Acid to an Isoleucine at codon 130, and creates a premature stop codon at position 23 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. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Color RCV000580692 SCV000682166 pathogenic Hereditary cancer-predisposing syndrome 2020-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580692 SCV001182947 pathogenic Hereditary cancer-predisposing syndrome 2018-06-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001206728 SCV001378050 pathogenic Ataxia-telangiectasia syndrome 2019-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp130Ilefs*23) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745642834, ExAC 0.006%). This variant has been observed in individuals affected with ATM-related conditions (PMID: 26556299, 30549301). ClinVar contains an entry for this variant (Variation ID: 265634). 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.