chr11:47355161:G>A Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,355,161-47,355,161
hg38 chr11:47,333,610-47,333,610 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.3137C>T NP_000247.2:p.Thr1046Met
Ensemble ENST00000399249.6:c.3137C>T ENST00000399249.6:p.Thr1046Met
ENST00000545968.6:c.3137C>T ENST00000545968.6:p.Thr1046Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.010
ToMMo:0.011
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 tgv42451283 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-06-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Likely benign 2014-12-16 criteria provided, single submitter not specified germline Detail
Uncertain significance 2015-04-16 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-02-17 criteria provided, single submitter cardiomyopathy germline Detail
Conflicting interpretations of pathogenicity 2024-01-21 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline Detail
Likely benign 2021-08-04 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.3137C>T (p.Thr1046Met) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) 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
rs371061770 dbSNP
Genome
hg19
Position
chr11:47,355,161-47,355,161
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
191.24
Standard deviation of sample read depth (HGVD)
87.14
Number of reference allele (HGVD)
2395
Number of alternative allele (HGVD)
25
Allele Frequency (HGVD)
0.010330578512396695
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))
rs371061770
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.011
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
184
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8584
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.824790307548928E-4
Chromosome Counts in All Race (ExAC)
120394
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.814243234712693E-5
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