chr1:201359245:G>A Detail (hg38) (TNNT2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:201,328,373-201,328,373 View the variant detail on this assembly version.
hg38	chr1:201,359,245-201,359,245

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.832C>T	NP_001001430.1:p.Arg278Cys
	NM_001276346.1:c.733C>T	NP_001263275.1:p.Arg245Cys
	NM_001001431.2:c.820C>T	NP_001001431.1:p.Arg274Cys
	NM_001276347.1:c.832C>T	NP_001263276.1:p.Arg278Cys
Ensemble	ENST00000367318.10:c.832C>T	ENST00000367318.10:p.Arg278Cys
	ENST00000367320.6:c.733C>T	ENST00000367320.6:p.Arg245Cys
	ENST00000367322.6:c.820C>T	ENST00000367322.6:p.Arg274Cys
	ENST00000412633.3:c.823C>T	ENST00000412633.3:p.Arg275Cys
	ENST00000422165.6:c.853C>T	ENST00000422165.6:p.Arg285Cys
	ENST00000438742.6:c.811C>T	ENST00000438742.6:p.Arg271Cys
	ENST00000455702.7:c.847C>T	ENST00000455702.7:p.Arg283Cys
	ENST00000509001.5:c.832C>T	ENST00000509001.5:p.Arg278Cys
	ENST00000656932.1:c.862C>T	ENST00000656932.1:p.Arg288Cys
	ENST00000658476.1:c.897C>T	ENST00000658476.1:p.Pro299=
	ENST00000660295.1:c.832C>T	ENST00000660295.1:p.Arg278Cys
	ENST00000714312.1:c.655C>T	ENST00000714312.1:p.Arg219Cys
	ENST00000714313.1:c.700C>T	ENST00000714313.1:p.Arg234Cys
	ENST00000714314.1:c.862C>T	ENST00000714314.1:p.Arg288Cys
	ENST00000714316.2:c.*20C>T
	ENST00000714317.1:c.655C>T	ENST00000714317.1:p.Arg219Cys

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
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Links

TNNT2

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-12-15	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2	germline unknown	Detail
Uncertain significance	2019-02-19	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Pathogenic	2017-07-20	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2013-08-28	no assertion criteria provided	Costello syndrome	germline	Detail
Uncertain significance	2023-06-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2014-09-10	criteria provided, single submitter	hypertrophic cardiomyopathy 1	germline	Detail
Uncertain significance	2024-02-01	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	germline inherited	Detail
Uncertain significance	2024-02-01	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	germline inherited	Detail
Uncertain significance	2024-02-01	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	germline inherited	Detail
Likely pathogenic	2024-03-14	criteria provided, single submitter		germline	Detail
Conflicting interpretations of pathogenicity	2021-10-06	criteria provided, conflicting interpretations	dilated cardiomyopathy 1D	unknown	Detail
Conflicting interpretations of pathogenicity	2023-03-27	criteria provided, conflicting interpretations	hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2023-09-18	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
0.120	Costello syndrome (disorder)	NA	CLINVAR		Detail
0.156	hypertrophic cardiomyopathy	We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and i...	BeFree	20038417	Detail
0.256	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail
0.440	Cardiomyopathy, Familial Hypertrophic, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND not specified	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Costello syndrome	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy 1	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Cardiovascular phenotype	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) AND Cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three muta...	DisGeNET	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: rs121964857 dbSNP
Genome: hg38
Position: chr1:201,359,245-201,359,245
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6754
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 93228
Allele Counts in All Race (ExAC): 40
Heterozygous Counts in All Race (ExAC): 40
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.2905564851761273E-4

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