chr4:6303974:C>T Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,974-6,303,974
hg38 chr4:6,302,247-6,302,247 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2452C>T NP_001139325.1:p.Arg818Cys
NM_006005.3:c.2452C>T NP_005996.2:p.Arg818Cys
Ensemble ENST00000226760.5:c.2452C>T ENST00000226760.5:p.Arg818Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606201 OMIM
HGNC 12762 HGNC
Ensembl ENSG00000109501 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15958853 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2015-12-21 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter WFS1-Related Spectrum Disorders germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6 germline Detail
Uncertain significance 2015-07-31 criteria provided, single submitter Monogenic diabetes unknown Detail
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations not provided germline Detail
Benign 2019-05-28 criteria provided, single submitter Wolfram syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.626 Wolfram syndrome Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. UNIPROT 11161832 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND not specified ClinVar Detail
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND WFS1-Related Spectrum Disorders ClinVar Detail
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND Autosomal dominant nonsyndromic hearing loss 6 ClinVar Detail
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND Monogenic diabetes ClinVar Detail
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) AND Wolfram syndrome 1 ClinVar Detail
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs35932623 dbSNP
Genome
hg19
Position
chr4:6,303,974-6,303,974
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs35932623
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16752
East Asian Chromosome Counts (ExAC)
8554
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1690437222352116E-4
Chromosome Counts in All Race (ExAC)
118642
Allele Counts in All Race (ExAC)
576
Heterozygous Counts in All Race (ExAC)
574
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0048549417575563455
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