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NM_000051.4(ATM):c.2125-48T>C AND Ataxia-telangiectasia syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 2, 2018
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:
RCV000709169.3

Allele description [Variation Report for NM_000051.4(ATM):c.2125-48T>C]

NM_000051.4(ATM):c.2125-48T>C

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.2125-48T>C
HGVS:
  • NC_000011.10:g.108256167T>C
  • NG_009830.1:g.38336T>C
  • NM_000051.4:c.2125-48T>CMANE SELECT
  • NM_001351834.2:c.2125-48T>C
  • LRG_135:g.38336T>C
  • NC_000011.9:g.108126894T>C
Links:
dbSNP: rs371067508
NCBI 1000 Genomes Browser:
rs371067508
Molecular consequence:
  • NM_000051.4:c.2125-48T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.2125-48T>C - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000838497Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(Jul 2, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV000838497.2

#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 20, 2024