U.S. flag

An official website of the United States government

NM_006005.3(WFS1):c.2296C>T (p.His766Tyr) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001825040.1

Allele description [Variation Report for NM_006005.3(WFS1):c.2296C>T (p.His766Tyr)]

NM_006005.3(WFS1):c.2296C>T (p.His766Tyr)

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.2296C>T (p.His766Tyr)
HGVS:
  • NC_000004.12:g.6302091C>T
  • NG_011700.1:g.37242C>T
  • NM_001145853.1:c.2296C>T
  • NM_006005.3:c.2296C>TMANE SELECT
  • NP_001139325.1:p.His766Tyr
  • NP_005996.2:p.His766Tyr
  • LRG_1417t1:c.2296C>T
  • LRG_1417:g.37242C>T
  • LRG_1417p1:p.His766Tyr
  • NC_000004.11:g.6303818C>T
Protein change:
H766Y
Links:
dbSNP: rs1553878946
NCBI 1000 Genomes Browser:
rs1553878946
Molecular consequence:
  • NM_001145853.1:c.2296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2296C>T - 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
Name:
Wolfram-like syndrome
Synonyms:
HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; Wolfram-like syndrome, autosomal dominant
Identifiers:
MONDO: MONDO:0013673; MedGen: C3280358; Orphanet: 411590; OMIM: 614296
Name:
Wolfram syndrome
Synonyms:
DIDMOAD syndrome; Diabetes mellitus AND insipidus with optic atrophy AND deafness
Identifiers:
MONDO: MONDO:0018105; MedGen: C0043207
Name:
WFS1-Related Spectrum Disorders
Identifiers:
MedGen: CN239410

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075198GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 06-28-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Dec 24, 2023