ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5910del (p.Glu1971fs) (rs587782198)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130858 SCV000185757 pathogenic Hereditary cancer-predisposing syndrome 2018-09-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000480849 SCV000568327 pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.5910delA at the cDNA level and p.Glu1971ArgfsX19 (E1971RfsX19) at the protein level. The normal sequence, with the base that is deleted in braces, is ATCA[A]GAGA. The deletion causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 1971, 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.5910delA has been observed in at least one individual with ataxia telangiectasia (Stankovic 1998). We consider this variant to be pathogenic.
Counsyl RCV000576813 SCV000678093 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-25 criteria provided, single submitter clinical testing
Invitae RCV000576813 SCV000816559 pathogenic Ataxia-telangiectasia syndrome 2019-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1971Argfs*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 individuals affected with ataxia-telangiectasia (PMID: 9463314, 15928302) and metastatic prostate cancer (PMID: 27433846) as well as breast cancer (PMID: 28779002). ClinVar contains an entry for this variant (Variation ID: 142051). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000130858 SCV001347418 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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