ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) (rs1060501547)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463805 SCV000546691 pathogenic Ataxia-telangiectasia syndrome 2017-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2567Glufs*5) 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 not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000486343 SCV000572199 likely pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing This deletion of four nucleotides in ATM is denoted c.7699_7702delAACA at the cDNA level and p.Asn2567GlufsX5 (N2567EfsX5) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGCA[AACA]GAGA. The deletion causes a frameshift which changes an Asparagine to a Glutamic Acid at codon 2567, and creates a premature stop codon at position 5 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 evidence, we consider this deletion to be a likely pathogenic variant.
Ambry Genetics RCV001026721 SCV001189158 pathogenic Hereditary cancer-predisposing syndrome 2019-06-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV001026721 SCV001341164 pathogenic Hereditary cancer-predisposing syndrome 2020-03-21 criteria provided, single submitter clinical testing

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