NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 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:: RCV002527686.2

Allele description [Variation Report for NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala)]

NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala)

Gene:

WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p12

Genomic location:

Preferred name:

NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala)

HGVS:

NC_000008.11:g.31147087T>G
NG_008870.1:g.118826T>G
NM_000553.6:c.3418T>GMANE SELECT
NP_000544.2:p.Ser1140Ala
LRG_524t1:c.3418T>G
LRG_524:g.118826T>G
NC_000008.10:g.31004603T>G
NM_000553.4:c.3418T>G

Protein change:

S1140A

Links:

dbSNP: rs1554533914

NCBI 1000 Genomes Browser:

rs1554533914

Molecular consequence:

NM_000553.6:c.3418T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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peroxidase 52 [Zea mays]
peroxidase 52 [Zea mays]
gi|670447702|ref|XP_008664053.1|

Protein
ras association domain-containing protein 10 [Homo sapiens]
ras association domain-containing protein 10 [Homo sapiens]
gi|304434798|ref|NP_001073990.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003739812	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003739812

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 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, SCV003739812.2

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

Description

The c.3418T>G (p.S1140A) alteration is located in exon 29 (coding exon 28) of the WRN gene. This alteration results from a T to G substitution at nucleotide position 3418, causing the serine (S) at amino acid position 1140 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, 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: Sep 29, 2024

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