chr1:201368212: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	chr1:201,337,340-201,337,340 View the variant detail on this assembly version.
hg38	chr1:201,368,212-201,368,212

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.83C>T	NP_001001430.1:p.Ala28Val
	NM_001276346.1:c.113C>T	NP_001263275.1:p.Ala38Val
	NM_001001431.2:c.83C>T	NP_001001431.1:p.Ala28Val
	NM_001276347.1:c.83C>T	NP_001263276.1:p.Ala28Val
Ensemble	ENST00000367318.10:c.83C>T	ENST00000367318.10:p.Ala28Val
	ENST00000367320.6:c.113C>T	ENST00000367320.6:p.Ala38Val
	ENST00000367322.6:c.83C>T	ENST00000367322.6:p.Ala28Val
	ENST00000412633.3:c.83C>T	ENST00000412633.3:p.Ala28Val
	ENST00000422165.6:c.113C>T	ENST00000422165.6:p.Ala38Val
	ENST00000438742.6:c.68C>T	ENST00000438742.6:p.Ala23Val
	ENST00000455702.7:c.98C>T	ENST00000455702.7:p.Ala33Val
	ENST00000509001.5:c.83C>T	ENST00000509001.5:p.Ala28Val
	ENST00000656932.1:c.113C>T	ENST00000656932.1:p.Ala38Val
	ENST00000658476.1:c.83C>T	ENST00000658476.1:p.Ala28Val
	ENST00000660295.1:c.83C>T	ENST00000660295.1:p.Ala28Val
	ENST00000714312.1:c.-95C>T
	ENST00000714313.1:c.68C>T	ENST00000714313.1:p.Ala23Val
	ENST00000714314.1:c.113C>T	ENST00000714314.1:p.Ala38Val
	ENST00000714316.2:c.83C>T	ENST00000714316.2:p.Ala28Val
	ENST00000714317.1:c.-92C>T

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

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	tgv303817829	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2018-03-15	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2014-06-01	criteria provided, single submitter	Increased left ventricular wall thickness	germline	Detail
Pathogenic		no assertion criteria provided	Primary familial hypertrophic cardiomyopathy	germline	Detail
Likely benign	2021-06-11	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2018-11-21	criteria provided, single submitter	dilated cardiomyopathy 1D	unknown	Detail
Likely benign	2022-08-30	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Likely benign	2017-10-02	criteria provided, single submitter		germline	Detail
Likely benign	2024-01-31	criteria provided, single submitter	dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely benign	2024-01-31	criteria provided, single submitter	dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely benign	2024-01-31	criteria provided, single submitter	dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2018-02-21	criteria provided, single submitter	hypertrophic cardiomyopathy 2	germline	Detail
Uncertain significance	2018-02-21	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely benign	2019-04-22	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.256	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail
0.440	Cardiomyopathy, Familial Hypertrophic, 2	Clinical and mutational spectrum in a cohort of 105 unrelated patients with dila...	UNIPROT	21846512	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND not specified	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Increased left ventricular wall thickness	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND not provided	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Cardiomyopathy	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Supraventricular tachycardia	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND multiple conditions	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND multiple conditions	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND multiple conditions	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Cardiomyopathy, familial restrictive, 3	ClinVar	Detail
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.	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: rs200754249 dbSNP
Genome: hg38
Position: chr1:201,368,212-201,368,212
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1563367252543941E-4
Chromosome Counts in All Race (ExAC): 121208
Allele Counts in All Race (ExAC): 59
Heterozygous Counts in All Race (ExAC): 59
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.867665500627021E-4

Genome browser