ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8831_8832CT[1] (p.Leu2945fs) (rs786203030)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166157 SCV000216930 pathogenic Hereditary cancer-predisposing syndrome 2014-10-16 criteria provided, single submitter clinical testing
Color RCV000166157 SCV000903221 pathogenic Hereditary cancer-predisposing syndrome 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000486575 SCV000568343 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing This deletion of two nucleotides in ATM is denoted c.8833_8834delCT at the cDNA level and p.Leu2945ValfsX10 (L2945VfsX10) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AACT[delCT]GTTA. The deletion causes a frameshift which changes a Leucine to a Valine at codon 2945, and creates a premature stop codon at position 10 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.8833_8834delCT has been observed in at least three individuals with Ataxia-telangiectasia and one individual with breast cancer (Telatar 1996, Li 2000, Magliozzi 2006, Prodosmo 2016). We consider this variant to be pathogenic.
Invitae RCV000699426 SCV000828136 pathogenic Ataxia-telangiectasia syndrome 2018-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2945Valfs*10) 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: 8659541, 17124347, 10817650) and breast cancer (PMID: 27599564, 29271107). ClinVar contains an entry for this variant (Variation ID: 186546). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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