NM_001184.4(ATR):c.6312G>T (p.Trp2104Cys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 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:: RCV002368842.2

Allele description [Variation Report for NM_001184.4(ATR):c.6312G>T (p.Trp2104Cys)]

NM_001184.4(ATR):c.6312G>T (p.Trp2104Cys)

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.6312G>T (p.Trp2104Cys)

HGVS:

NC_000003.12:g.142470093C>A
NG_008951.1:g.113734G>T
NM_001184.4:c.6312G>TMANE SELECT
NM_001354579.2:c.6120G>T
NP_001175.2:p.Trp2104Cys
NP_001341508.1:p.Trp2040Cys
LRG_1403t1:c.6312G>T
LRG_1403:g.113734G>T
LRG_1403p1:p.Trp2104Cys
NC_000003.11:g.142188935C>A
NM_001184.3:c.6312G>T

Protein change:

W2040C

Molecular consequence:

NM_001184.4:c.6312G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354579.2:c.6120G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002656763	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002656763

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 12, 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 Ambry Genetics, SCV002656763.2

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

Description

The p.W2104C variant (also known as c.6312G>T), located in coding exon 37 of the ATR gene, results from a G to T substitution at nucleotide position 6312. The tryptophan at codon 2104 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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