NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 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:: RCV003439233.10

Allele description [Variation Report for NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg)]

NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg)

Gene:

WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

Preferred name:

NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg)

HGVS:

NC_000004.12:g.6301357T>G
NG_011700.1:g.36508T>G
NM_001145853.1:c.1562T>G
NM_006005.3:c.1562T>GMANE SELECT
NP_001139325.1:p.Leu521Arg
NP_005996.1:p.Leu521Arg
NP_005996.2:p.Leu521Arg
LRG_1417t1:c.1562T>G
LRG_1417:g.36508T>G
LRG_1417p1:p.Leu521Arg
NC_000004.11:g.6303084T>G
NM_006005.2:c.1562T>G

Protein change:

L521R

Molecular consequence:

NM_001145853.1:c.1562T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1562T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gm29601 predicted gene 29601 [Mus musculus]
Gm29601 predicted gene 29601 [Mus musculus]
Gene ID:105246667

Gene
Gm29601 AND (alive[prop]) (1)
Gene
ALDH2 [Pogona vitticeps]
ALDH2 [Pogona vitticeps]
Gene ID:110083855

Gene
Leishmania infantum
Leishmania infantum
A parasitic hemoflagellate of the subgenus Leishmania leishmania that infects man and animals and causes visceral leishmaniasis (LEISHMANIASIS, VISCERAL). Human infections are...<br/>Year introduced: 1994

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004147638	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jul 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004147638

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Jul 1, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004147638.10

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

Description

WFS1: PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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