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NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) 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:
RCV000509458.4

Allele description [Variation Report for NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)]

NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)

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.124C>T (p.Arg42Ter)
HGVS:
  • NC_000004.12:g.6277579C>T
  • NG_011700.1:g.12730C>T
  • NM_001145853.1:c.124C>T
  • NM_006005.3:c.124C>TMANE SELECT
  • NP_001139325.1:p.Arg42Ter
  • NP_005996.2:p.Arg42Ter
  • LRG_1417t1:c.124C>T
  • LRG_1417:g.12730C>T
  • LRG_1417p1:p.Arg42Ter
  • NC_000004.11:g.6279306C>T
  • p.Arg42X
Protein change:
R42*
Links:
dbSNP: rs71530923
NCBI 1000 Genomes Browser:
rs71530923
Molecular consequence:
  • NM_001145853.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006005.3:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Wolfram syndrome 1 (WFS1)
Identifiers:
MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607106GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

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

Details of each submission

From GenomeConnect, ClinGen, SCV000607106.1

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

Description

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
1maternalunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: May 19, 2024