ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8432del (p.Lys2811fs) (rs587782558)

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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 RCV000131776 SCV000186823 pathogenic Hereditary cancer-predisposing syndrome 2018-12-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000229908 SCV000283082 pathogenic Ataxia-telangiectasia syndrome 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2811Serfs*46) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759472682, ExAC 0.002%). This variant has been reported in individuals affected with ataxia-telangiectasia (PMID: 17376192, 10817650, 10980530). ClinVar contains an entry for this variant (Variation ID: 142575). Loss-of-function variants in ATM are known to be pathogenic (PMID: 25614872, 23807571). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000235769 SCV000293442 pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.8432delA at the cDNA level and p.Lys2811SerfsX46 (K2811SfsX46) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAAAAA[delA]GTCT. The deletion causes a frameshift, which changes a Lysine to a Serine at codon 2811 and creates a premature stop codon at position 46 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.8432delA has been observed in individuals with ataxia-telangiectasia (Li 2000, Stray-Pedersen 2004), and in at least one individual undergoing multi-gene panel testing for hereditary cancer (LaDuca 2014). We consider this variant to be pathogenic.
Counsyl RCV000229908 SCV000678111 pathogenic Ataxia-telangiectasia syndrome 2017-05-19 criteria provided, single submitter clinical testing
Color RCV000131776 SCV000682489 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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