NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410022.1

Allele description [Variation Report for NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)]

NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)
HGVS:
  • NC_000011.10:g.108299838_108299839delinsAC
  • NG_009830.1:g.82007_82008delinsAC
  • NM_000051.4:c.5130_5131delinsACMANE SELECT
  • NM_001351834.2:c.5130_5131delinsAC
  • NP_000042.3:p.Trp1710_Thr1711delinsTer
  • NP_001338763.1:p.Trp1710_Thr1711delinsTer
  • LRG_135:g.82007_82008delinsAC
  • NC_000011.9:g.108170565_108170566delinsAC
  • NM_000051.3:c.5130_5131delGAinsAC
Links:
dbSNP: rs1057516358
NCBI 1000 Genomes Browser:
rs1057516358
Molecular consequence:
  • NM_000051.4:c.5130_5131delinsAC - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.5130_5131delinsAC - 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
SCV000485523Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 28, 2015)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000485523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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