chr15:63062219:C>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	chr15:63,354,418-63,354,418 View the variant detail on this assembly version.
hg38	chr15:63,062,219-63,062,219

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.644C>T	NP_001018007.1:p.Ser215Leu
	NM_000366.5:c.644C>T	NP_000357.3:p.Ser215Leu
	NM_001330351.1:c.536C>T	NP_001317280.1:p.Ser179Leu
	NM_001018008.1:c.536C>T	NP_001018008.1:p.Ser179Leu
	NM_001018006.1:c.644C>T	NP_001018006.1:p.Ser215Leu
	NM_001018005.1:c.644C>T	NP_001018005.1:p.Ser215Leu
	NM_001301244.1:c.644C>T	NP_001288173.1:p.Ser215Leu
	NM_001301289.1:c.536C>T	NP_001288218.1:p.Ser179Leu
	NM_001330346.1:c.536C>T	NP_001317275.1:p.Ser179Leu
	NM_001018020.1:c.644C>T	NP_001018020.1:p.Ser215Leu
	NM_001018004.1:c.644C>T	NP_001018004.1:p.Ser215Leu
Ensemble	ENST00000267996.11:c.644C>T	ENST00000267996.11:p.Ser215Leu
	ENST00000288398.10:c.644C>T	ENST00000288398.10:p.Ser215Leu
	ENST00000317516.12:c.536C>T	ENST00000317516.12:p.Ser179Leu
	ENST00000334895.10:c.536C>T	ENST00000334895.10:p.Ser179Leu
	ENST00000357980.9:c.770C>T	ENST00000357980.9:p.Ser257Leu
	ENST00000358278.7:c.644C>T	ENST00000358278.7:p.Ser215Leu
	ENST00000403994.9:c.644C>T	ENST00000403994.9:p.Ser215Leu
	ENST00000404484.9:c.536C>T	ENST00000404484.9:p.Ser179Leu
	ENST00000558910.3:c.536C>T	ENST00000558910.3:p.Ser179Leu
	ENST00000559281.6:c.536C>T	ENST00000559281.6:p.Ser179Leu
	ENST00000559397.6:c.644C>T	ENST00000559397.6:p.Ser215Leu
	ENST00000559556.5:c.644C>T	ENST00000559556.5:p.Ser215Leu
	ENST00000560615.6:c.266C>T	ENST00000560615.6:p.Ser89Leu
	ENST00000560959.5:c.536C>T	ENST00000560959.5:p.Ser179Leu
	ENST00000560970.6:c.644C>T	ENST00000560970.6:p.Ser215Leu
	ENST00000561266.6:c.644C>T	ENST00000561266.6:p.Ser215Leu
	ENST00000651577.1:c.266C>T	ENST00000651577.1:p.Ser89Leu
	ENST00000651704.1:c.266C>T	ENST00000651704.1:p.Ser89Leu
	ENST00000714013.1:c.770C>T	ENST00000714013.1:p.Ser257Leu
	ENST00000714014.1:c.644C>T	ENST00000714014.1:p.Ser215Leu
	ENST00000714017.1:c.644C>T	ENST00000714017.1:p.Ser215Leu

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	Pathogenic Likely pathogenic
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
Likely pathogenic	2023-04-12	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2015-09-28	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2017-08-01	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic Likely pathogenic	2024-01-16	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2020-05-07	criteria provided, single submitter		germline	Detail
Pathogenic		criteria provided, single submitter	dilated cardiomyopathy 1Y	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.127	Cardiomyopathies	NA	CLINVAR		Detail
0.248	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Cardiovascular phenotype	ClinVar	Detail
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Dilated cardiomyopathy 1Y	ClinVar	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: rs199476316 dbSNP
Genome: hg38
Position: chr15:63,062,219-63,062,219
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121278
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.24551856066228E-6

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