NM_000051.4(ATM):c.4007del (p.Phe1336fs) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Mar 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673529.1

Allele description [Variation Report for NM_000051.4(ATM):c.4007del (p.Phe1336fs)]

NM_000051.4(ATM):c.4007del (p.Phe1336fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
HGVS:
  • NC_000011.10:g.108287613del
  • NG_009830.1:g.69782del
  • NM_000051.4:c.4007delMANE SELECT
  • NM_001351834.2:c.4007del
  • NP_000042.3:p.Phe1336fs
  • NP_001338763.1:p.Phe1336fs
  • LRG_135:g.69782del
  • NC_000011.9:g.108158340del
  • NM_000051.3:c.4007delT
Protein change:
F1336fs
Links:
dbSNP: rs1555095841
NCBI 1000 Genomes Browser:
rs1555095841
Molecular consequence:
  • NM_000051.4:c.4007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.4007del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000798741Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 23, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798741.1

#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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