chr11:47353637:C>T Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,353,637-47,353,637
hg38 chr11:47,332,086-47,332,086 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.3800G>A NP_000247.2:p.Arg1267His
Ensemble ENST00000545968.6:c.3800G>A ENST00000545968.6:p.Arg1267His
ENST00000399249.6:c.3800G>A ENST00000399249.6:p.Arg1267His
Summary

MGeND

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

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv42450917 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
Uncertain significance 2015-11-11 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2024-01-22 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-12-16 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2023-09-20 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-10-20 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) AND Cardiovascular phenotype ClinVar 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
rs730880142 dbSNP
Genome
hg19
Position
chr11:47,353,637-47,353,637
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1159
Mean of sample read depth (HGVD)
28.76
Standard deviation of sample read depth (HGVD)
13.38
Number of reference allele (HGVD)
2317
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.314063848144953E-4
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))
rs730880142
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8568
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3342670401493932E-4
Chromosome Counts in All Race (ExAC)
117940
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.2394437849754115E-5
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