chr11:47339792:T>C Detail (hg38) (MYBPC3)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:47,361,343-47,361,343 View the variant detail on this assembly version.
hg38	chr11:47,339,792-47,339,792

HGVS

MYBPC3

Type	Transcript	Protein
RefSeq	NM_000256.3:c.1928-2A>G
Ensemble	ENST00000399249.6:c.1928-2A>G
	ENST00000545968.6:c.1928-2A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

MYBPC3

Type	Database	ID	Link
Gene	MIM	600958	OMIM
	HGNC	7551	HGNC
	Ensembl	ENSG00000134571	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
Pathogenic	2018-07-06	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 4	germline	Detail
Pathogenic	2024-01-23	criteria provided, multiple submitters, no conflicts	Primary familial hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2022-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-01-26	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2023-05-25	criteria provided, single submitter		germline	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10	unknown	Detail
Pathogenic	2023-03-08	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Pathogenic	2018-08-14	criteria provided, single submitter	MYBPC3-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Cardiomyopathy, Familial Hypertrophic, 4	NA	CLINVAR		Detail
0.247	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000256.3(MYBPC3):c.1928-2A>G AND Hypertrophic cardiomyopathy 4	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND not provided	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND Cardiovascular phenotype	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND multiple conditions	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND multiple conditions	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND Cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.1928-2A>G AND MYBPC3-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs397515937 dbSNP
Genome: hg38
Position: chr11:47,339,792-47,339,792
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser