ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4111delG (rs797045114)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Individualized Medicine,Mayo Clinic RCV000190639 SCV000245682 likely pathogenic Ataxia-telangiectasia syndrome 2014-01-01 criteria provided, single submitter research
Ambry Genetics RCV000213987 SCV000277571 pathogenic Hereditary cancer-predisposing syndrome 2017-11-28 criteria provided, single submitter clinical testing The c.4111delG pathogenic mutation, located in coding exon 27 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4111, causing a translational frameshift with a predicted alternate stop codon (p.D1371Ifs*15). This mutation, referred to as c.4110delG, was detected in an ataxia telangiectasia (AT) patient in conjunction with a second pathogenic ATM mutation (Riise R, Acta Ophthalmol Scand 2007 Aug; 85(5):557-62). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Color Health, Inc RCV000213987 SCV000913937 pathogenic Hereditary cancer-predisposing syndrome 2020-02-19 criteria provided, single submitter clinical testing
Invitae RCV000190639 SCV000954775 pathogenic Ataxia-telangiectasia syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1371Ilefs*15) 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 an individual affected with breast cancer (PMID: 26296701), and on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with ataxia telangiectasia (PMID: 15196260, 17376192). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has also been reported as c.4110delG in the literature. ClinVar contains an entry for this variant (Variation ID: 208636). 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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