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NM_000051.3(ATM):c.5015delG (p.Gly1672Glufs) AND Ataxia-telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 28, 2015
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:
RCV000205871.1

Allele description

NM_000051.3(ATM):c.5015delG (p.Gly1672Glufs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.3(ATM):c.5015delG (p.Gly1672Glufs)
HGVS:
  • NC_000011.10:g.108299723delG
  • NG_009830.1:g.81892delG
  • NM_000051.3:c.5015delG
  • NP_000042.3:p.Gly1672Glufs
  • LRG_135t1:c.5015delG
  • LRG_135:g.81892delG
  • LRG_135p1:p.Gly1672Glufs
  • NC_000011.9:g.108170450delG
Links:
dbSNP: rs864622662
NCBI 1000 Genomes Browser:
rs864622662
Molecular consequence:
  • NM_000051.3:c.5015delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MedGen: C0004135; Orphanet: 100; OMIM: 208900
Age of onset:
Childhood
Prevalence:
1-5 / 10 000 100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000261684Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 28, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Invitae, SCV000261684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This sequence change deletes 1 nucleotide from exon 34 of the ATM mRNA (c.5015delG), causing a frameshift at codon 1672. This creates a premature translational stop signal (p.Gly1672Glufs*10) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 8, 2017