NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 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:: RCV002330076.2

Allele description [Variation Report for NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu)]

NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu)

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.4277C>A (p.Ala1426Glu)

HGVS:

NC_000011.10:g.108289642C>A
NG_009830.1:g.71811C>A
NM_000051.4:c.4277C>AMANE SELECT
NM_001351834.2:c.4277C>A
NP_000042.3:p.Ala1426Glu
NP_000042.3:p.Ala1426Glu
NP_001338763.1:p.Ala1426Glu
LRG_135t1:c.4277C>A
LRG_135:g.71811C>A
LRG_135p1:p.Ala1426Glu
NC_000011.9:g.108160369C>A
NM_000051.3:c.4277C>A

Protein change:

A1426E

Molecular consequence:

NM_000051.4:c.4277C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.4277C>A - 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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insA [Shigella flexneri 2a str. 301]
insA [Shigella flexneri 2a str. 301]
Gene ID:1023979

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002631588	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 16, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002631588

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 16, 2020)

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

Details of each submission

From Ambry Genetics, SCV002631588.2

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

Description

The p.A1426E variant (also known as c.4277C>A), located in coding exon 28 of the ATM gene, results from a C to A substitution at nucleotide position 4277. The alanine at codon 1426 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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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