NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672308.1

Allele description [Variation Report for NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)]

NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
HGVS:
  • NC_000011.10:g.108272556T>G
  • NG_009830.1:g.54725T>G
  • NM_000051.4:c.3102T>GMANE SELECT
  • NM_001351834.2:c.3102T>G
  • NP_000042.3:p.Tyr1034Ter
  • NP_000042.3:p.Tyr1034Ter
  • NP_001338763.1:p.Tyr1034Ter
  • LRG_135t1:c.3102T>G
  • LRG_135:g.54725T>G
  • LRG_135p1:p.Tyr1034Ter
  • NC_000011.9:g.108143283T>G
  • NM_000051.3:c.3102T>G
Protein change:
Y1034*
Links:
dbSNP: rs780240314
NCBI 1000 Genomes Browser:
rs780240314
Molecular consequence:
  • NM_000051.4:c.3102T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.3102T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000797405Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 24, 2018)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Rapid screen for truncating ATM mutations by PTT-ELISA.

Du L, Lai CH, Concannon P, Gatti RA.

Mutat Res. 2008 Apr 2;640(1-2):139-44. doi: 10.1016/j.mrfmmm.2008.01.002. Epub 2008 Jan 31.

PubMed [citation]
PMID:
18321536

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA.

Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18.

PubMed [citation]
PMID:
23774824
PMCID:
PMC3776636

Details of each submission

From Counsyl, SCV000797405.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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