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NM_000051.4(ATM):c.3994-121del AND Ataxia-telangiectasia syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 25, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001828125.1

Allele description [Variation Report for NM_000051.4(ATM):c.3994-121del]

NM_000051.4(ATM):c.3994-121del

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.3994-121del
HGVS:
  • NC_000011.10:g.108287479del
  • NG_009830.1:g.69648del
  • NM_000051.4:c.3994-121delMANE SELECT
  • NM_001351834.2:c.3994-121del
  • LRG_135:g.69648del
  • NC_000011.9:g.108158206del
  • NM_000051.3:c.3994-121delC
Links:
dbSNP: rs56013141
NCBI 1000 Genomes Browser:
rs56013141
Molecular consequence:
  • NM_000051.4:c.3994-121del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.3994-121del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002081603Natera, Inc.
no assertion criteria provided
Benign
(Sep 25, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002081603.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024