chr1:201364336:G>T 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	chr1:201,333,464-201,333,464 View the variant detail on this assembly version.
hg38	chr1:201,364,336-201,364,336

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.421C>A	NP_001001430.1:p.Arg141=
	NM_001276346.1:c.331C>A	NP_001263275.1:p.Arg111=
	NM_001001431.2:c.418C>A	NP_001001431.1:p.Arg140=
	NM_001276347.1:c.421C>A	NP_001263276.1:p.Arg141=
Ensemble	ENST00000367318.10:c.421C>A	ENST00000367318.10:p.Arg141=
	ENST00000367320.6:c.331C>A	ENST00000367320.6:p.Arg111=
	ENST00000367322.6:c.418C>A	ENST00000367322.6:p.Arg140=
	ENST00000412633.3:c.421C>A	ENST00000412633.3:p.Arg141=
	ENST00000422165.6:c.451C>A	ENST00000422165.6:p.Arg151=
	ENST00000438742.6:c.403C>A	ENST00000438742.6:p.Arg135=
	ENST00000455702.7:c.436C>A	ENST00000455702.7:p.Arg146=
	ENST00000509001.5:c.421C>A	ENST00000509001.5:p.Arg141=
	ENST00000656932.1:c.451C>A	ENST00000656932.1:p.Arg151=
	ENST00000658476.1:c.421C>A	ENST00000658476.1:p.Arg141=
	ENST00000660295.1:c.421C>A	ENST00000660295.1:p.Arg141=
	ENST00000714312.1:c.244C>A	ENST00000714312.1:p.Arg82=
	ENST00000714313.1:c.289C>A	ENST00000714313.1:p.Arg97=
	ENST00000714314.1:c.451C>A	ENST00000714314.1:p.Arg151=
	ENST00000714316.2:c.421C>A	ENST00000714316.2:p.Arg141=
	ENST00000714317.1:c.244C>A	ENST00000714317.1:p.Arg82=

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	Benign Likely benign
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	tgv303817697	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2012-01-06	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2022-08-02	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Benign	2023-12-31	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline unknown	Detail
Benign	2023-12-31	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline unknown	Detail
Benign	2023-12-31	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline unknown	Detail
Likely benign	2019-10-22	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2023-04-18	criteria provided, single submitter		germline	Detail
Likely benign	2023-04-11	criteria provided, single submitter	hypertrophic cardiomyopathy 2	germline	Detail
Likely benign	2023-04-11	criteria provided, single submitter	dilated cardiomyopathy 1D	germline	Detail
Likely benign	2023-04-11	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely benign	2023-10-17	criteria provided, single submitter	TNNT2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	CARDIOMYOPATHY, DILATED, 1D (disorder)	NA	CLINVAR		Detail
0.256	Cardiomyopathy, Dilated	NA	CLINVAR		Detail
0.440	Cardiomyopathy, Familial Hypertrophic, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND not specified	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND Cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND Cardiovascular phenotype	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND Cardiomyopathy, familial restrictive, 3	ClinVar	Detail
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) AND TNNT2-related disorder	ClinVar	Detail
NA	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: rs74315379 dbSNP
Genome: hg38
Position: chr1:201,364,336-201,364,336
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8524
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): 115868
Allele Counts in All Race (ExAC): 20
Heterozygous Counts in All Race (ExAC): 20
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.7261021162011945E-4

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