NM_000051.4(ATM):c.2644A>G (p.Ile882Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 2023
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:: RCV003283513.2

Allele description [Variation Report for NM_000051.4(ATM):c.2644A>G (p.Ile882Val)]

NM_000051.4(ATM):c.2644A>G (p.Ile882Val)

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.2644A>G (p.Ile882Val)

HGVS:

NC_000011.10:g.108268415A>G
NG_009830.1:g.50584A>G
NM_000051.4:c.2644A>GMANE SELECT
NM_001351834.2:c.2644A>G
NP_000042.3:p.Ile882Val
NP_000042.3:p.Ile882Val
NP_001338763.1:p.Ile882Val
LRG_135t1:c.2644A>G
LRG_135:g.50584A>G
LRG_135p1:p.Ile882Val
NC_000011.9:g.108139142A>G
NM_000051.3:c.2644A>G

Protein change:

I882V

Molecular consequence:

NM_000051.4:c.2644A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.2644A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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KHDC1L KH domain containing 1 like [Homo sapiens]
KHDC1L KH domain containing 1 like [Homo sapiens]
Gene ID:100129128

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004007179	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2023)	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

SCV004007179

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2023)

germline

clinical testing

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

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

Citations

PubMed

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G, Improgo MR, Kasar S, Poh W, Kamburov A, Landau DA, Tausch E, Taylor-Weiner A, Cibulskis C, Bahl S, Fernandes SM, Hoang K, Rheinbay E, Kim HT, Bahlo J, Robrecht S, Fischer K, Hallek M, Gabriel S, Lander ES, Stilgenbauer S, Wu CJ, et al.

Leukemia. 2017 Oct;31(10):2244-2247. doi: 10.1038/leu.2017.201. Epub 2017 Jun 27. No abstract available.

PubMed [citation]

PMID:: 28652578
PMCID:: PMC5628120

Details of each submission

From Ambry Genetics, SCV004007179.2

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

Description

The p.I882V variant (also known as c.2644A>G), located in coding exon 17 of the ATM gene, results from an A to G substitution at nucleotide position 2644. The isoleucine at codon 882 is replaced by valine, an amino acid with highly similar properties. This alteration has been reported in normal population control subjects (Tiao G et al. Leukemia, 2017 Oct;31:2244-2247). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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