NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Nov 21, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664518.1

Allele description [Variation Report for NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)]

NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)

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.3320_3323del (p.Arg1106_Leu1107insTer)
HGVS:
  • NC_000011.10:g.108279526_108279529del
  • NG_009830.1:g.61695_61698del
  • NM_000051.4:c.3320_3323delMANE SELECT
  • NM_001351834.2:c.3320_3323del
  • NP_000042.3:p.Arg1106_Leu1107insTer
  • NP_001338763.1:p.Arg1106_Leu1107insTer
  • LRG_135:g.61695_61698del
  • NC_000011.9:g.108150253_108150256del
  • NM_000051.3:c.3320_3323delTACT
Links:
dbSNP: rs1555090139
NCBI 1000 Genomes Browser:
rs1555090139
Molecular consequence:
  • NM_000051.4:c.3320_3323del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.3320_3323del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788493Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 21, 2017)
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, SCV000788493.1

#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: Oct 25, 2021

Support Center