NM_000051.4(ATM):c.3154-1G>A AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Feb 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672474.1

Allele description [Variation Report for NM_000051.4(ATM):c.3154-1G>A]

NM_000051.4(ATM):c.3154-1G>A

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.3154-1G>A
HGVS:
  • NC_000011.10:g.108272721G>A
  • NG_009830.1:g.54890G>A
  • NM_000051.3:c.3154-1G>A
  • NM_000051.4:c.3154-1G>AMANE SELECT
  • NM_001351834.2:c.3154-1G>A
  • LRG_135t1:c.3154-1G>A
  • LRG_135:g.54890G>A
  • NC_000011.9:g.108143448G>A
Links:
dbSNP: rs1555085973
NCBI 1000 Genomes Browser:
rs1555085973
Molecular consequence:
  • NM_000051.3:c.3154-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000051.4:c.3154-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351834.2:c.3154-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000797581Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 6, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreƫls FJ, Last JI, Taylor AM.

Neurology. 2006 Jul 25;67(2):346-9.

PubMed [citation]
PMID:
16864838

Details of each submission

From Counsyl, SCV000797581.1

#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

Support Center