chr1:201361989:G>A Detail (hg38) (TNNT2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:201,331,117-201,331,117 View the variant detail on this assembly version.
hg38	chr1:201,361,989-201,361,989

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.613C>T	NP_001001430.1:p.Arg205Trp
	NM_001276346.1:c.514C>T	NP_001263275.1:p.Arg172Trp
	NM_001001431.2:c.601C>T	NP_001001431.1:p.Arg201Trp
	NM_001276347.1:c.613C>T	NP_001263276.1:p.Arg205Trp
Ensemble	ENST00000367318.10:c.613C>T	ENST00000367318.10:p.Arg205Trp
	ENST00000367320.6:c.514C>T	ENST00000367320.6:p.Arg172Trp
	ENST00000367322.6:c.601C>T	ENST00000367322.6:p.Arg201Trp
	ENST00000412633.3:c.604C>T	ENST00000412633.3:p.Arg202Trp
	ENST00000422165.6:c.634C>T	ENST00000422165.6:p.Arg212Trp
	ENST00000438742.6:c.592C>T	ENST00000438742.6:p.Arg198Trp
	ENST00000455702.7:c.628C>T	ENST00000455702.7:p.Arg210Trp
	ENST00000509001.5:c.613C>T	ENST00000509001.5:p.Arg205Trp
	ENST00000656932.1:c.643C>T	ENST00000656932.1:p.Arg215Trp
	ENST00000658476.1:c.613C>T	ENST00000658476.1:p.Arg205Trp
	ENST00000660295.1:c.613C>T	ENST00000660295.1:p.Arg205Trp
	ENST00000714312.1:c.436C>T	ENST00000714312.1:p.Arg146Trp
	ENST00000714313.1:c.481C>T	ENST00000714313.1:p.Arg161Trp
	ENST00000714314.1:c.643C>T	ENST00000714314.1:p.Arg215Trp
	ENST00000714316.2:c.610C>T	ENST00000714316.2:p.Arg204Trp
	ENST00000714317.1:c.436C>T	ENST00000714317.1:p.Arg146Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

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	COSM1689605	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2014-04-29	no assertion criteria provided	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2022-12-29	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2024-02-07	criteria provided, single submitter		germline	Detail
Likely pathogenic	2019-09-16	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2024-01-15	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Pathogenic	2024-01-15	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Pathogenic	2024-01-15	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely pathogenic	2019-01-21	criteria provided, single submitter	Primary familial dilated cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.256	Cardiomyopathy, Dilated	NA	CLINVAR		Detail
0.256	Cardiomyopathy, Dilated	A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family mem...	BeFree	24205113	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) AND Primary familial dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also de...	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: rs45586240 dbSNP
Genome: hg38
Position: chr1:201,361,989-201,361,989
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser