chr1:201365656:T>C 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	chr1:201,334,784-201,334,784 View the variant detail on this assembly version.
hg38	chr1:201,365,656-201,365,656

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.218A>G	NP_001001430.1:p.Asn73Ser
	NM_001276346.1:c.245A>G	NP_001263275.1:p.Asn82Ser
	NM_001001431.2:c.215A>G	NP_001001431.1:p.Asn72Ser
	NM_001276347.1:c.218A>G	NP_001263276.1:p.Asn73Ser
Ensemble	ENST00000367318.10:c.218A>G	ENST00000367318.10:p.Asn73Ser
	ENST00000367320.6:c.245A>G	ENST00000367320.6:p.Asn82Ser
	ENST00000367322.6:c.215A>G	ENST00000367322.6:p.Asn72Ser
	ENST00000412633.3:c.218A>G	ENST00000412633.3:p.Asn73Ser
	ENST00000422165.6:c.248A>G	ENST00000422165.6:p.Asn83Ser
	ENST00000438742.6:c.200A>G	ENST00000438742.6:p.Asn67Ser
	ENST00000455702.7:c.233A>G	ENST00000455702.7:p.Asn78Ser
	ENST00000509001.5:c.218A>G	ENST00000509001.5:p.Asn73Ser
	ENST00000656932.1:c.248A>G	ENST00000656932.1:p.Asn83Ser
	ENST00000658476.1:c.218A>G	ENST00000658476.1:p.Asn73Ser
	ENST00000660295.1:c.218A>G	ENST00000660295.1:p.Asn73Ser
	ENST00000714312.1:c.41A>G	ENST00000714312.1:p.Asn14Ser
	ENST00000714313.1:c.203A>G	ENST00000714313.1:p.Asn68Ser
	ENST00000714314.1:c.248A>G	ENST00000714314.1:p.Asn83Ser
	ENST00000714316.2:c.218A>G	ENST00000714316.2:p.Asn73Ser
	ENST00000714317.1:c.41A>G	ENST00000714317.1:p.Asn14Ser

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	2017-10-05	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-10-13	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2023-10-13	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2023-10-13	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2024-01-11	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Likely pathogenic	2017-06-29	criteria provided, single submitter	dilated cardiomyopathy 1D	germline	Detail
Uncertain significance	2019-12-06	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	CARDIOMYOPATHY, DILATED, 1D (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND not specified	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Cardiovascular phenotype	ClinVar	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: rs397516450 dbSNP
Genome: hg38
Position: chr1:201,365,656-201,365,656
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8604
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): 117138
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.707387867301815E-5

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