NM_000051.4(ATM):c.5319+1G>T AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 11, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411373.1

Allele description [Variation Report for NM_000051.4(ATM):c.5319+1G>T]

NM_000051.4(ATM):c.5319+1G>T

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.5319+1G>T
HGVS:
  • NC_000011.10:g.108301790G>T
  • NG_009830.1:g.83959G>T
  • NM_000051.4:c.5319+1G>TMANE SELECT
  • NM_001351834.2:c.5319+1G>T
  • LRG_135t1:c.5319+1G>T
  • LRG_135:g.83959G>T
  • NC_000011.9:g.108172517G>T
  • NM_000051.3:c.5319+1G>T
Links:
dbSNP: rs876660175
NCBI 1000 Genomes Browser:
rs876660175
Molecular consequence:
  • NM_000051.4:c.5319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351834.2:c.5319+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000485441Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 11, 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, SCV000485441.1

#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

Support Center