chr17:80385145:G>A Detail (hg38) (RNF213, RNF213-AS1)

Information

Genome

Assembly Position
hg19 chr17:78,358,945-78,358,945 View the variant detail on this assembly version.
hg38 chr17:80,385,145-80,385,145

HGVS

Type Transcript Protein
RefSeq NM_001256071.2:c.14429G>A NP_001243000.2:p.Arg4810Lys
Ensemble ENST00000508628.6:c.14576G>A ENST00000508628.6:p.Arg4859Lys
ENST00000582970.6:c.14429G>A ENST00000582970.6:p.Arg4810Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.010
ToMMo:0.008
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 613768 OMIM
HGNC 14539 HGNC
Ensembl ENSG00000173821 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58873090 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000185) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-07-26 criteria provided, conflicting interpretations Moyamoya disease 2 germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-04 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Moyamoya disease MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
0.125 Moyamoya disease 1 RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, su... BeFree 23850618 Detail
0.248 Moyamoya disease RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, su... BeFree 23850618 Detail
<0.001 Moyamoya disease 1 MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
0.248 Moyamoya disease Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 ... BeFree 22688066 Detail
0.125 Moyamoya disease 1 Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 ... BeFree 22688066 Detail
0.125 Moyamoya disease 1 The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces ... BeFree 23994138 Detail
0.248 Moyamoya disease The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces ... BeFree 23994138 Detail
<0.001 Moyamoya disease 1 MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
<0.001 Stricture of artery Recently, we have reported that the recently identified MMD susceptibility gene ... BeFree 25817623 Detail
<0.001 Moyamoya disease MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) AND Moyamoya disease 2 ClinVar Detail
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) AND not provided ClinVar Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is ... DisGeNET Detail
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is ... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeas... DisGeNET Detail
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeas... DisGeNET Detail
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability ... DisGeNET Detail
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability ... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
Recently, we have reported that the recently identified MMD susceptibility gene variant RNF213 c.145... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... 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
rs112735431 dbSNP
Genome
hg38
Position
chr17:80,385,145-80,385,145
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1185
Mean of sample read depth (HGVD)
36.80
Standard deviation of sample read depth (HGVD)
19.27
Number of reference allele (HGVD)
2347
Number of alternative allele (HGVD)
23
Allele Frequency (HGVD)
0.009704641350210971
Gene Symbol (HGVD)
RNF213
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))
rs112735431
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0084
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
141
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
34
East Asian Heterozygous Counts (ExAC)
34
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003929727230698105
Chromosome Counts in All Race (ExAC)
121402
Allele Counts in All Race (ExAC)
43
Heterozygous Counts in All Race (ExAC)
43
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.541951532923675E-4
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