NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2017
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:: RCV000156674.5

Allele description [Variation Report for NM_006005.3(WFS1):c.1645C>G (p.Leu549Val)]

NM_006005.3(WFS1):c.1645C>G (p.Leu549Val)

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.1645C>G (p.Leu549Val)

HGVS:

NC_000004.12:g.6301440C>G
NG_011700.1:g.36591C>G
NM_001145853.1:c.1645C>G
NM_006005.3:c.1645C>GMANE SELECT
NP_001139325.1:p.Leu549Val
NP_005996.2:p.Leu549Val
LRG_1417t1:c.1645C>G
LRG_1417:g.36591C>G
LRG_1417p1:p.Leu549Val
NC_000004.11:g.6303167C>G

Protein change:

L549V

Links:

dbSNP: rs1801211

NCBI 1000 Genomes Browser:

rs1801211

Molecular consequence:

NM_001145853.1:c.1645C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1645C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000206395	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Apr 19, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000206395

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Apr 19, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206395.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

Description

The p.Leu549Val variant in WFS1 has been reported in 1 individual with hearing l oss (LMM unpublished data), and was absent from large population studies. Comput ational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the p.Leu549Val va riant is uncertain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine