NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 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:: RCV000564573.1

Allele description

NM_000051.3(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_000051.3(ATM):c.7792C>T (p.Arg2598Ter)

HGVS:

NC_000011.10:g.108332765C>T
NG_009830.1:g.114934C>T
NM_000051.3:c.7792C>T
NP_000042.3:p.Arg2598Ter
LRG_135t1:c.7792C>T
LRG_135:g.114934C>T
LRG_135p1:p.Arg2598Ter
NC_000011.9:g.108203492C>T

Protein change:

R2598*

Links:

dbSNP: rs138941496

Molecular consequence:

NM_000051.3:c.7792C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000668152	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Pathogenic (Aug 16, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8808599, 12815592, 10416970, 15039971 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668152

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Pathogenic
(Aug 16, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P.

Am J Hum Genet. 1996 Oct;59(4):839-46.

PubMed [citation]

PMID:: 8808599
PMCID:: PMC1914811

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA.

Hum Mutat. 2003 Jul;22(1):43-50.

PubMed [citation]

PMID:: 12815592

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000668152.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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

Last Updated: May 2, 2019

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