NM_000051.4(ATM):c.2805G>C (p.Thr935=) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Aug 15, 2023
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:: RCV000211989.11

Allele description [Variation Report for NM_000051.4(ATM):c.2805G>C (p.Thr935=)]

NM_000051.4(ATM):c.2805G>C (p.Thr935=)

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.2805G>C (p.Thr935=)

Other names:

p.T935T:ACG>ACC

HGVS:

NC_000011.10:g.108268576G>C
NG_009830.1:g.50745G>C
NM_000051.4:c.2805G>CMANE SELECT
NM_001351834.2:c.2805G>C
NP_000042.3:p.Thr935=
NP_000042.3:p.Thr935=
NP_001338763.1:p.Thr935=
LRG_135t1:c.2805G>C
LRG_135:g.50745G>C
LRG_135p1:p.Thr935=
NC_000011.9:g.108139303G>C
NM_000051.3:c.2805G>C
p.T935T

Links:

dbSNP: rs55934812

NCBI 1000 Genomes Browser:

rs55934812

Molecular consequence:

NM_000051.4:c.2805G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001351834.2:c.2805G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000167075	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Oct 15, 2013)	germline	clinical testing	Citation Link,
SCV000694235	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Oct 22, 2020)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 21933854, 11505391, 25625042, 20305132, 12697903, 28423360 Citation Link,
SCV002068485	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 31, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002760538	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

Skowronska A, Austen B, Powell JE, Weston V, Oscier DG, Dyer MJ, Matutes E, Pratt G, Fegan C, Moss P, Taylor MA, Stankovic T.

Haematologica. 2012 Jan;97(1):142-6. doi: 10.3324/haematol.2011.048827. Epub 2011 Sep 20.

PubMed [citation]

PMID:: 21933854
PMCID:: PMC3248944

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, Concannon P.

Cancer. 2001 Aug 1;92(3):479-87.

PubMed [citation]

PMID:: 11505391

See all PubMed Citations (7)

Details of each submission

From GeneDx, SCV000167075.11

#	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 considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694235.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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 Genetic Services Laboratory, University of Chicago, SCV002068485.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760538.3

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

#	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: Oct 20, 2024

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