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NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs) AND Ataxia-telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV003238375.8

Allele description [Variation Report for NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)]

NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)
HGVS:
  • NC_000011.10:g.108333898_108333928del
  • NG_009830.1:g.116067_116097del
  • NG_054724.1:g.140906_140936del
  • NM_000051.4:c.7940_7970delMANE SELECT
  • NM_001330368.2:c.641-24856_641-24826del
  • NM_001351110.2:c.*38+1293_*38+1323del
  • NM_001351834.2:c.7940_7970del
  • NP_000042.3:p.Ile2647Argfs
  • NP_000042.3:p.Ile2647fs
  • NP_001338763.1:p.Ile2647fs
  • LRG_135t1:c.7940_7970del31
  • LRG_135:g.116067_116097del
  • LRG_135p1:p.Ile2647Argfs
  • NC_000011.9:g.108204625_108204655del
  • NM_000051.3:c.7940_7970del31
  • NM_000051.4:c.7940_7970delTTCCAGCAGACCAGCCAATTACTAAACTTAAMANE SELECT
Protein change:
I2647fs
Links:
dbSNP: rs2136611559
NCBI 1000 Genomes Browser:
rs2136611559
Molecular consequence:
  • NM_000051.4:c.7940_7970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.7940_7970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-24856_641-24826del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+1293_*38+1323del - 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
SCV003936082Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, SCV003936082.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024