chr11:47333924:G>C Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,355,475-47,355,475 View the variant detail on this assembly version.
hg38 chr11:47,333,924-47,333,924

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.2992C>G NP_000247.2:p.Gln998Glu
Ensemble ENST00000399249.6:c.2992C>G ENST00000399249.6:p.Gln998Glu
ENST00000545968.6:c.2992C>G ENST00000545968.6:p.Gln998Glu
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.008
ToMMo:0.011
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.032

Prediction

ClinVar

Clinical Significance Benign Likely benign
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 tgv42451368 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-05-27 no assertion criteria provided Primary dilated cardiomyopathy germline Detail
Benign Likely benign 2017-07-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2013-06-24 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy unknown Detail
Benign 2024-02-01 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Benign 2015-09-29 criteria provided, single submitter germline Detail
Likely benign 2018-01-29 criteria provided, single submitter Left ventricular noncompaction 10 germline Detail
Benign Likely benign 2019-05-28 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline unknown Detail
Benign 2021-09-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2018-03-09 criteria provided, single submitter cardiomyopathy germline Detail
Benign 2019-06-11 criteria provided, single submitter cardiomyopathy,Primary dilated cardiomyopathy germline Detail
Benign 2019-06-11 criteria provided, single submitter cardiomyopathy,Primary dilated cardiomyopathy germline Detail
Benign 2022-04-01 criteria provided, single submitter hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10 unknown Detail
Benign 2022-04-01 criteria provided, single submitter hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10 unknown 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
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Left ventricular noncompaction 10 ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) AND multiple conditions ClinVar Detail
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 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
rs11570112 dbSNP
Genome
hg38
Position
chr11:47,333,924-47,333,924
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
115.63
Standard deviation of sample read depth (HGVD)
58.94
Number of reference allele (HGVD)
2396
Number of alternative allele (HGVD)
20
Allele Frequency (HGVD)
0.008278145695364239
Gene Symbol (HGVD)
MYBPC3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs11570112
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0111
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
186
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
1336
East Asian Allele Counts (ExAC)
43
East Asian Heterozygous Counts (ExAC)
39
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.03218562874251497
Chromosome Counts in All Race (ExAC)
27500
Allele Counts in All Race (ExAC)
144
Heterozygous Counts in All Race (ExAC)
132
Homozygous Counts in All Race (ExAC)
6
Allele Frequency in All Race (ExAC)
0.005236363636363636
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