NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Mar 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412348.1

Allele description [Variation Report for NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)]

NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)

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.2135C>G (p.Ser712Ter)
HGVS:
  • NC_000011.10:g.108256225C>G
  • NG_009830.1:g.38394C>G
  • NM_000051.3:c.2135C>G
  • NM_000051.4:c.2135C>GMANE SELECT
  • NM_001351834.2:c.2135C>G
  • NP_000042.3:p.Ser712Ter
  • NP_000042.3:p.Ser712Ter
  • NP_001338763.1:p.Ser712Ter
  • LRG_135t1:c.2135C>G
  • LRG_135:g.38394C>G
  • LRG_135p1:p.Ser712Ter
  • NC_000011.9:g.108126952C>G
Protein change:
S712*
Links:
dbSNP: rs1057516620
NCBI 1000 Genomes Browser:
rs1057516620
Molecular consequence:
  • NM_000051.3:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000051.4:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.2135C>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
SCV000485957Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 7, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, et al.

J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.

PubMed [citation]
PMID:
21665257

Details of each submission

From Counsyl, SCV000485957.1

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

Last Updated: Oct 25, 2021

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