NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 18, 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:: RCV000236088.1

Allele description [Variation Report for NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)]

NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)

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.1463G>A (p.Trp488Ter)

HGVS:

NC_000011.10:g.108250928G>A
NG_009830.1:g.33097G>A
NM_000051.4:c.1463G>AMANE SELECT
NM_001351834.2:c.1463G>A
NP_000042.3:p.Trp488Ter
NP_000042.3:p.Trp488Ter
NP_001338763.1:p.Trp488Ter
LRG_135t1:c.1463G>A
LRG_135:g.33097G>A
LRG_135p1:p.Trp488Ter
NC_000011.9:g.108121655G>A
NM_000051.3:c.1463G>A

Protein change:

W488*

Links:

dbSNP: rs879254093

NCBI 1000 Genomes Browser:

rs879254093

Molecular consequence:

NM_000051.4:c.1463G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.1463G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293431	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293431

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 18, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293431.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted ATM c.1463G>A at the cDNA level and p.Trp488Ter (W488X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported patients with classical ataxia-telangiectasia (Cavalieri 2006, Magliozzi 2006, Broccoletti 2011) and is considered pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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