chr15:63044030:G>T Detail (hg38) (TPM1)

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

Genome

Assembly	Position
hg19	chr15:63,336,229-63,336,229 View the variant detail on this assembly version.
hg38	chr15:63,044,030-63,044,030

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.240+199G>T
	NM_000366.5:c.118G>T	NP_000357.3:p.Glu40Ter
	NM_001018006.1:c.118G>T	NP_001018006.1:p.Glu40Ter
	NM_001018005.1:c.118G>T	NP_001018005.1:p.Glu40Ter
	NM_001301244.1:c.118G>T	NP_001288173.1:p.Glu40Ter
	NM_001018020.1:c.240+199G>T
	NM_001018004.1:c.118G>T	NP_001018004.1:p.Glu40Ter
Ensemble	ENST00000267996.11:c.240+199G>T
	ENST00000288398.10:c.118G>T	ENST00000288398.10:p.Glu40Ter
	ENST00000357980.9:c.244G>T	ENST00000357980.9:p.Glu82Ter
	ENST00000358278.7:c.118G>T	ENST00000358278.7:p.Glu40Ter
	ENST00000403994.9:c.118G>T	ENST00000403994.9:p.Glu40Ter
	ENST00000559397.6:c.240+199G>T
	ENST00000559556.5:c.118G>T	ENST00000559556.5:p.Glu40Ter
	ENST00000560970.6:c.118G>T	ENST00000560970.6:p.Glu40Ter
	ENST00000561266.6:c.240+199G>T
	ENST00000610733.1:c.118G>T	ENST00000610733.1:p.Glu40Ter
	ENST00000714013.1:c.244G>T	ENST00000714013.1:p.Glu82Ter
	ENST00000714014.1:c.118G>T	ENST00000714014.1:p.Glu40Ter
	ENST00000714017.1:c.118G>T	ENST00000714017.1:p.Glu40Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

TPM1

Type	Database	ID	Link
Gene	MIM	191010	OMIM
	HGNC	12010	HGNC
	Ensembl	ENSG00000140416	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	2021-03-31	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-12-13	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2023-06-23	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-03-29	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2021-07-08	criteria provided, single submitter	dilated cardiomyopathy 1Y,hypertrophic cardiomyopathy 3	unknown	Detail
Uncertain significance	2021-07-08	criteria provided, single submitter	dilated cardiomyopathy 1Y,hypertrophic cardiomyopathy 3	unknown	Detail
Uncertain significance	2019-04-04	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
<0.001	Familial dilated cardiomyopathy	The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial...	BeFree	17360712	Detail
0.016	Cardiomyopathy, Dilated	E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopa...	BeFree	17360712	Detail
0.016	Cardiomyopathy, Dilated	The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyo...	BeFree	19222994	Detail
0.360	Cardiomyopathy, Dilated, 1y	NA	CLINVAR		Detail
0.034	hypertrophic cardiomyopathy	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (H...	BeFree	16043485	Detail
0.016	Cardiomyopathy, Dilated	The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin...	BeFree	21741356	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND Cardiovascular phenotype	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND Cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND multiple conditions	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND multiple conditions	ClinVar	Detail
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) AND Primary dilated cardiomyopathy	ClinVar	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	Detail
The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopa...	DisGeNET	Detail
E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy.	DisGeNET	Detail
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).	DisGeNET	Detail
NA	DisGeNET	Detail
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, ...	DisGeNET	Detail
The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin-myosin interactions...	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: rs104894501 dbSNP
Genome: hg38
Position: chr15:63,044,030-63,044,030
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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