chr10:112590912:G>A Detail (hg19) (RBM20)

Information

Genome

Assembly Position
hg19 chr10:112,590,912-112,590,912
hg38 chr10:110,831,154-110,831,154 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001134363.2:c.3545G>A NP_001127835.2:p.Arg1182His
Ensemble ENST00000369519.4:c.3545G>A ENST00000369519.4:p.Arg1182His
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.003

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 613171 OMIM
HGNC 27424 HGNC
Ensembl ENSG00000203867 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40658983 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-06-01 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Benign 2021-05-03 criteria provided, single submitter germline Detail
Likely benign 2023-05-15 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-13 criteria provided, conflicting interpretations dilated cardiomyopathy 1DD germline unknown Detail
Likely benign 2020-02-04 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Cardiomyopathy, Dilated NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND Primary dilated cardiomyopathy ClinVar Detail
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND Cardiovascular phenotype ClinVar Detail
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND not specified ClinVar Detail
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND Dilated cardiomyopathy 1DD ClinVar Detail
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND not provided ClinVar Detail
NA 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
rs563762318 dbSNP
Genome
hg19
Position
chr10:112,590,912-112,590,912
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1031
Mean of sample read depth (HGVD)
23.64
Standard deviation of sample read depth (HGVD)
17.51
Number of reference allele (HGVD)
2060
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
9.699321047526673E-4
Gene Symbol (HGVD)
RBM20
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))
rs563762318
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0012
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
20
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
618
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003236245954692557
Chromosome Counts in All Race (ExAC)
19792
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0105092966855295E-4
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