chr19:55665463:G>A Detail (hg19) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,665,463-55,665,463
hg38 chr19:55,154,095-55,154,095 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.484C>T NP_000354.4:p.Arg162Trp
Ensemble ENST00000344887.10:c.484C>T ENST00000344887.10:p.Arg162Trp
ENST00000588882.1:c.409C>T ENST00000588882.1:p.Arg137Trp
Summary

MGeND

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

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
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 191044 OMIM
HGNC 11947 HGNC
Ensembl ENSG00000129991 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62697435 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex) germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-06-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-04-25 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline unknown Detail
Conflicting interpretations of pathogenicity 2024-04-04 criteria provided, conflicting interpretations hypertrophic cardiomyopathy 7 germline Detail
Likely pathogenic 2023-10-20 criteria provided, multiple submitters, no conflicts germline Detail
Likely pathogenic 2023-05-09 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2021-08-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF,hypertrophic cardiomyopathy 7 unknown Detail
Pathogenic 2021-08-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF,hypertrophic cardiomyopathy 7 unknown Detail
Pathogenic 2021-08-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF,hypertrophic cardiomyopathy 7 unknown Detail
Pathogenic 2021-08-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF,hypertrophic cardiomyopathy 7 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.257 Cardiomyopathy, Hypertrophic, Familial We have analyzed the functional effects of two HCM mutations (R145G and R162W) u... BeFree 10806205 Detail
0.257 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND not provided ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND Hypertrophic cardiomyopathy 7 ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND Cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) AND multiple conditions ClinVar Detail
We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recomb... DisGeNET 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
rs368861241 dbSNP
Genome
hg19
Position
chr19:55,665,463-55,665,463
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1197
Mean of sample read depth (HGVD)
42.93
Standard deviation of sample read depth (HGVD)
20.94
Number of reference allele (HGVD)
2393
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.177109440267335E-4
Gene Symbol (HGVD)
TNNI3
East Asian Chromosome Counts (ExAC)
8604
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1622501162250116E-4
Chromosome Counts in All Race (ExAC)
120202
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.327731651719605E-5
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