chr1:201328349:G>A Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,328,349-201,328,349
hg38 chr1:201,359,221-201,359,221 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276346.1:c.757C>T NP_001263275.1:p.Arg253Cys
NM_001001431.2:c.844C>T NP_001001431.1:p.Arg282Cys
NM_001276347.1:c.856C>T NP_001263276.1:p.Arg286Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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 191045 OMIM
HGNC 11949 HGNC
Ensembl ENSG00000118194 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5456239 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-10-08 criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2023-12-26 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2023-12-26 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2023-12-26 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Uncertain significance 2021-11-10 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2023-10-06 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline unknown Detail
Uncertain significance 2019-12-26 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-10-06 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
0.440 Cardiomyopathy, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) AND Cardiomyopathy ClinVar Detail
NA 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
rs367785431 dbSNP
Genome
hg19
Position
chr1:201,328,349-201,328,349
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
6430
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.5552099533437013E-4
Chromosome Counts in All Race (ExAC)
89396
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1186182826972124E-5
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