NM_001184.4(ATR):c.1070T>A (p.Val357Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 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:: RCV002421655.2

Allele description [Variation Report for NM_001184.4(ATR):c.1070T>A (p.Val357Glu)]

NM_001184.4(ATR):c.1070T>A (p.Val357Glu)

Gene:

ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q23

Genomic location:

Preferred name:

NM_001184.4(ATR):c.1070T>A (p.Val357Glu)

HGVS:

NC_000003.12:g.142562332A>T
NG_008951.1:g.21495T>A
NM_001184.4:c.1070T>AMANE SELECT
NM_001354579.2:c.1070T>A
NP_001175.2:p.Val357Glu
NP_001341508.1:p.Val357Glu
LRG_1403t1:c.1070T>A
LRG_1403:g.21495T>A
LRG_1403p1:p.Val357Glu
NC_000003.11:g.142281174A>T
NM_001184.3:c.1070T>A

Protein change:

V357E

Molecular consequence:

NM_001184.4:c.1070T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354579.2:c.1070T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Gene ID:102516594

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002722081	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002722081

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 2022)

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, SCV002722081.2

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

Description

The p.V357E variant (also known as c.1070T>A), located in coding exon 4 of the ATR gene, results from a T to A substitution at nucleotide position 1070. The valine at codon 357 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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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