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NM_000051.4(ATM):c.6452+1G>T AND Ataxia-telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000679932.11

Allele description [Variation Report for NM_000051.4(ATM):c.6452+1G>T]

NM_000051.4(ATM):c.6452+1G>T

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.6452+1G>T
HGVS:
  • NC_000011.10:g.108320059G>T
  • NG_009830.1:g.102228G>T
  • NG_054724.1:g.154774C>A
  • NM_000051.4:c.6452+1G>TMANE SELECT
  • NM_001330368.2:c.641-10988C>A
  • NM_001351110.2:c.*39-10988C>A
  • NM_001351834.2:c.6452+1G>T
  • LRG_135t1:c.6452+1G>T
  • LRG_135:g.102228G>T
  • NC_000011.9:g.108190786G>T
  • NM_000051.3:c.6452+1G>T
Links:
dbSNP: rs1565509194
NCBI 1000 Genomes Browser:
rs1565509194
Molecular consequence:
  • NM_001330368.2:c.641-10988C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10988C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6452+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351834.2:c.6452+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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000807365Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 1, 2017) 		paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]
PMID:
25326635
PMCID:
PMC4326249

Details of each submission

From Baylor Genetics, SCV000807365.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)		 PubMed (2)

Description

This intronic mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a pathogenic nonsense mutation in a 7-month-old female with immune deficiency, hearing loss, and skin lesion.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided
(GTR000508680.4)		not providednot providednot providednot provided

Last Updated: Jun 23, 2024