NM_006005.3(WFS1):c.1636G>A (p.Val546Ile) AND Autosomal dominant nonsyndromic hearing loss 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 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:: RCV002466872.1

Allele description [Variation Report for NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)]

NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)

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.1636G>A (p.Val546Ile)

HGVS:

NC_000004.12:g.6301431G>A
NG_011700.1:g.36582G>A
NM_001145853.1:c.1636G>A
NM_006005.3:c.1636G>AMANE SELECT
NP_001139325.1:p.Val546Ile
NP_005996.1:p.Val546Ile
NP_005996.2:p.Val546Ile
LRG_1417t1:c.1636G>A
LRG_1417:g.36582G>A
LRG_1417p1:p.Val546Ile
NC_000004.11:g.6303158G>A
NM_006005.2:c.1636G>A

Protein change:

V546I

Molecular consequence:

NM_001145853.1:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1636G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL)
Synonyms:: DEAFNESS, AUTOSOMAL DOMINANT 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010963; MedGen: C1833021; Orphanet: 90635; OMIM: 600965

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
SCV002761718	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 24, 2022)	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

SCV002761718

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 24, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV002761718.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2022

ClinVar

Relating variation to medicine