ClinVar Miner

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

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Total submissions: 6
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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 The c.5910delA pathogenic mutation, located in coding exon 38 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 5910, causing a translational frameshift with a predicted alternate stop codon (p.E1971Rfs*19). This mutation was reported in conjunction with a second truncating mutation in a British ataxia-telangiectasia (AT) patient (Stankovic T et al. Am. J. Hum. Genet. 1998 Feb;62:334-45) and was detected in 2/13087 breast cancer cases and 0/5488 control individuals in the UK (Decker B et al. J. Med. Genet. 2017 Nov;54:732-741). In addition to the clinical data presented in the literature, 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.
GeneDx RCV000480849 SCV000568327 pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9463314, 27433846, 15928302, 28779002)
Counsyl RCV000576813 SCV000678093 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-25 criteria provided, single submitter clinical testing
Invitae RCV000576813 SCV000816559 pathogenic Ataxia-telangiectasia syndrome 2020-10-02 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 Health, Inc RCV000130858 SCV001347418 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000130858 SCV001448950 pathogenic Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter clinical testing

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