NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2020
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:: RCV002418228.2

Allele description [Variation Report for NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)]

NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)

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.2135C>G (p.Ser712Ter)

HGVS:

NC_000011.10:g.108256225C>G
NG_009830.1:g.38394C>G
NM_000051.4:c.2135C>GMANE SELECT
NM_001351834.2:c.2135C>G
NP_000042.3:p.Ser712Ter
NP_000042.3:p.Ser712Ter
NP_001338763.1:p.Ser712Ter
LRG_135t1:c.2135C>G
LRG_135:g.38394C>G
LRG_135p1:p.Ser712Ter
NC_000011.9:g.108126952C>G
NM_000051.3:c.2135C>G

Protein change:

S712*

Links:

dbSNP: rs1057516620

NCBI 1000 Genomes Browser:

rs1057516620

Molecular consequence:

NM_000051.4:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.2135C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002730024	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 28, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002730024

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 28, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, et al.

J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12.

PubMed [citation]

PMID:: 29906526

Details of each submission

From Ambry Genetics, SCV002730024.2

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

Description

The p.S712* variant (also known as c.2135C>G), located in coding exon 13 of the ATM gene, results from a C to G substitution at nucleotide position 2135. This changes the amino acid from a serine to a stop codon within coding exon 13. This alteration has been reported in a homozygous state in an individual with Ataxia-Telangiectasia (AT) (Berland A et al. J. Allergy Clin. Immunol., 2019 01;143:325-334.e2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 5, 2025

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