NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 12, 2016
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:: RCV000256020.1

Allele description

NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)

HGVS:

NC_000011.10:g.108332765C>T
NG_009830.1:g.114934C>T
NG_054724.1:g.142068G>A
NM_000051.4:c.7792C>TMANE SELECT
NM_001330368.2:c.641-23694G>A
NM_001351110.2:c.*38+2455G>A
NM_001351834.2:c.7792C>T
NP_000042.3:p.Arg2598Ter
NP_001338763.1:p.Arg2598Ter
LRG_135t1:c.7792C>T
LRG_135:g.114934C>T
NC_000011.9:g.108203492C>T
NM_000051.3:c.7792C>T

Protein change:

R2598*

Links:

dbSNP: rs138941496

Molecular consequence:

NM_001330368.2:c.641-23694G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+2455G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.7792C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.7792C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322214	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (May 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322214

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(May 12, 2016)

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, SCV000322214.7

#	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.7792C>T at the cDNA level and p.Arg2598Ter (R2598X) at the proteinlevel. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been observed in at least three ataxia-telangiectasia patients, 2 of whom were identified tocarry a second ATM truncating variant (Wright 1996, Mitui 2003, Lin 2015). We consider this variant to be likelypathogenic

#	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: Jun 18, 2022

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