NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409221.1

Allele description [Variation Report for NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)]

NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)

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.2877C>G (p.Tyr959Ter)
HGVS:
  • NC_000011.10:g.108271102C>G
  • NG_009830.1:g.53271C>G
  • NM_000051.3:c.2877C>G
  • NM_000051.4:c.2877C>GMANE SELECT
  • NM_001351834.2:c.2877C>G
  • NP_000042.3:p.Tyr959Ter
  • NP_000042.3:p.Tyr959Ter
  • NP_001338763.1:p.Tyr959Ter
  • LRG_135t1:c.2877C>G
  • LRG_135:g.53271C>G
  • LRG_135p1:p.Tyr959Ter
  • NC_000011.9:g.108141829C>G
Protein change:
Y959*
Links:
dbSNP: rs1057517253
NCBI 1000 Genomes Browser:
rs1057517253
Molecular consequence:
  • NM_000051.3:c.2877C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000051.4:c.2877C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.2877C>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
SCV000486988Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 19, 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

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA.

Hum Mutat. 2012 Jan;33(1):198-208. doi: 10.1002/humu.21632. Epub 2011 Nov 9.

PubMed [citation]
PMID:
22006793
PMCID:
PMC3261637

Details of each submission

From Counsyl, SCV000486988.1

#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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