chr11:47364249:G>A Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,364,249-47,364,249
hg38 chr11:47,342,698-47,342,698 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.1504C>T NP_000247.2:p.Arg502Trp
Ensemble ENST00000399249.6:c.1504C>T ENST00000399249.6:p.Arg502Trp
ENST00000545968.6:c.1504C>T ENST00000545968.6:p.Arg502Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2024-02-05 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline paternal Detail
Pathogenic Likely pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-07-16 criteria provided, multiple submitters, no conflicts germline Detail
Pathogenic 2019-02-18 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2024-04-23 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline unknown Detail
Pathogenic 2019-04-07 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-06-14 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely pathogenic no assertion criteria provided Left ventricular noncompaction 10 germline Detail
not provided no assertion provided Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 paternal Detail
not provided no assertion provided Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 paternal Detail
Pathogenic 2023-03-28 criteria provided, multiple submitters, no conflicts 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

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND Left ventricular noncompaction 10 ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) AND MYBPC3-related disorder 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
rs375882485 dbSNP
Genome
hg19
Position
chr11:47,364,249-47,364,249
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8624
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)
120674
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.486036760196894E-5
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