chr11:47338520:C>T Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,360,071-47,360,071 View the variant detail on this assembly version.
hg38 chr11:47,338,520-47,338,520

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.2308G>A NP_000247.2:p.Asp770Asn
Ensemble ENST00000399249.6:c.2308G>A ENST00000399249.6:p.Asp770Asn
ENST00000545968.6:c.2308G>A ENST00000545968.6:p.Asp770Asn
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 Conflicting classifications of pathogenicity
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 Likely pathogenic 2022-10-17 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline Detail
Conflicting interpretations of pathogenicity 2024-01-17 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline unknown Detail
Pathogenic 2021-07-19 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 2022-07-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Conduction disorder of the heart germline Detail
Likely pathogenic 2019-01-01 criteria provided, multiple submitters, no conflicts Left ventricular noncompaction 10 germline unknown Detail
Pathogenic 2021-12-15 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-12-22 criteria provided, single submitter cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 4 Myosin binding protein C mutations and compound heterozygosity in hypertrophic c... UNIPROT 15519027 Detail
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.2308G>A (p.Asp770Asn) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Conduction disorder of the heart ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Left ventricular noncompaction 10 ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Cardiomyopathy ClinVar Detail
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. DisGeNET 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
rs36211723 dbSNP
Genome
hg38
Position
chr11:47,338,520-47,338,520
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
120498
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)
8.298892927683448E-6
Genome browser