ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-34255_641-34252del (rs1064793046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481743 SCV000564669 likely pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing This deletion of four nucleotides in ATM is denoted c.8371_8374delTACA at the cDNA level and p.Tyr2791GlyfsX14 (Y2791GfsX14) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAGA[delTACA]GGCC. The deletion causes a frameshift which changes a Tyrosine to a Glycine at codon 2791, and creates a premature stop codon at position 14 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.8371_8374delTACA, also published as ATM c.8369GATAC>G using alternate nomenclature, has been observed in one individual with breast cancer and a strong family history of gastric cancer as well as in one individual with a Lynch syndrome-associated cancer and/or polyps (Hansford 2015, Yurgelun 2015). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Color RCV000581187 SCV000687825 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000696221 SCV000824773 pathogenic Ataxia-telangiectasia syndrome 2019-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2791Glyfs*14) 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 observed in individuals affected with breast cancer and suspected Lynch syndrome (PMID: 26182300, 25980754). This variant is also known as c.8369GATAC>G in the literature. ClinVar contains an entry for this variant (Variation ID: 418047). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000581187 SCV001178753 pathogenic Hereditary cancer-predisposing syndrome 2017-05-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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