NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 2022
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:: RCV002271757.8

Allele description [Variation Report for NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)]

NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)

Genes:

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

Variant type:

Indel

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)

HGVS:

NC_000011.10:g.108329106delinsTCATTGA
NG_009830.1:g.111275delinsTCATTGA
NG_054724.1:g.145727delinsTCAATGA
NM_000051.4:c.7175delinsTCATTGAMANE SELECT
NM_001330368.2:c.641-20035delinsTCAATGA
NM_001351110.2:c.*38+6114delinsTCAATGA
NM_001351834.2:c.7175delinsTCATTGA
NP_000042.3:p.Arg2392delinsLeuIleGlu
NP_000042.3:p.Arg2392delinsLeuIleGlu
NP_001338763.1:p.Arg2392delinsLeuIleGlu
LRG_135t1:c.7175delinsTCATTGA
LRG_135:g.111275delinsTCATTGA
NC_000011.9:g.108199833delinsTCATTGA
NM_000051.3:c.7175delGinsTCATTGA
NM_000051.3:c.7175delinsTCATTGA

Links:

dbSNP: rs2136415518

NCBI 1000 Genomes Browser:

rs2136415518

Molecular consequence:

NM_000051.4:c.7175delinsTCATTGA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001351834.2:c.7175delinsTCATTGA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001330368.2:c.641-20035delinsTCAATGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+6114delinsTCAATGA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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603394045F1 NIH_MGC_90 Homo sapiens cDNA clone IMAGE:5404115 5', mRNA sequence
603394045F1 NIH_MGC_90 Homo sapiens cDNA clone IMAGE:5404115 5', mRNA sequence
gi|16044237|gnl|dbEST|9728743|gb|BI 4.1|

Nucleotide
Stage IVB Colon Cancer AJCC v7
Stage IVB Colon Cancer AJCC v7

MedGen
Cell Surface Display Techniques
Cell Surface Display Techniques
Techniques utilizing cells that express RECOMBINANT FUSION PROTEINS engineered to translocate through the CELL MEMBRANE and remain attached to the outside of the cell....<br/>Year introduced: 2013

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002555653	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jun 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002555653

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jun 6, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002555653.1

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

Description

Variant summary: ATM c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu) results in an in-frame deletion-insertion that is predicted to delete one amino acid and insert three amino acids from the protein. The variant was absent in 282710 control chromosomes (gnomAD). To our knowledge, no occurrence of c.7175delinsTCATTGA in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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 13, 2024

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