NM_000051.4(ATM):c.735C>T (p.Val245=) AND not provided

Germline classification:: Benign (5 submissions)
Last evaluated:: Nov 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710681.43

Allele description [Variation Report for NM_000051.4(ATM):c.735C>T (p.Val245=)]

NM_000051.4(ATM):c.735C>T (p.Val245=)

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.735C>T (p.Val245=)

Other names:

NP_000042.3:p.Val245=

HGVS:

NC_000011.10:g.108244860C>T
NG_009830.1:g.27029C>T
NM_000051.4:c.735C>TMANE SELECT
NM_001351834.2:c.735C>T
NP_000042.3:p.Val245=
NP_000042.3:p.Val245=
NP_001338763.1:p.Val245=
LRG_135t1:c.735C>T
LRG_135:g.27029C>T
LRG_135p1:p.Val245=
NC_000011.9:g.108115587C>T
NM_000051.3:c.735C>T
p.V245V

Links:

dbSNP: rs3218674

NCBI 1000 Genomes Browser:

rs3218674

Molecular consequence:

NM_000051.4:c.735C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001351834.2:c.735C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

104

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000840958	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Sep 26, 2017)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 15756685, 16167060, 25625042, 24416720, 18701470, 12882767, 17490827, 10980530, 12149228, 16914028, 26467025
SCV001159124	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 22, 2023)	germline	clinical testing	Citation Link,
SCV001894266	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link,
SCV002036377	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002497168	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Nov 1, 2024)	germline	clinical testing	Citation Link

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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
not provided	germline	yes	104	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Association of common ATM polymorphism with bilateral breast cancer.

Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Nieminen P, Winqvist R.

Int J Cancer. 2005 Aug 10;116(1):69-72.

PubMed [citation]

PMID:: 15756685

Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.

Meier M, den Boer ML, Hall AG, Irving JA, Passier M, Minto L, van Wering ER, Janka-Schaub GE, Pieters R.

Leukemia. 2005 Nov;19(11):1887-95.

PubMed [citation]

PMID:: 16167060

See all PubMed Citations (11)

Details of each submission

From Athena Diagnostics, SCV000840958.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159124.7

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

#	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

From GeneDx, SCV001894266.1

#	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 associated with the following publications: (PMID: 12810666)

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036377.1

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002497168.19

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	104	not provided	not provided	clinical testing	not provided

Description

ATM: BP4, BP7, BS1, BS2

#	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		104	not provided	not provided	not provided

Last Updated: Jan 19, 2025

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