chr11:47350041:G>A Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,371,592-47,371,592 View the variant detail on this assembly version.
hg38 chr11:47,350,041-47,350,041

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.478C>T NP_000247.2:p.Arg160Trp
Ensemble ENST00000399249.6:c.478C>T ENST00000399249.6:p.Arg160Trp
ENST00000545968.6:c.478C>T ENST00000545968.6:p.Arg160Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

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 tgv42453190 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-06-01 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Benign Likely benign 2018-09-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline unknown Detail
Uncertain significance 2015-05-05 criteria provided, single submitter dilated cardiomyopathy 1A unknown Detail
Likely benign 2018-03-26 criteria provided, single submitter Left ventricular noncompaction 10 germline Detail
Benign 2017-02-17 criteria provided, single submitter germline Detail
Benign Likely benign 2022-12-06 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2018-03-26 criteria provided, single submitter hypertrophic cardiomyopathy 4 germline Detail
Likely benign 2023-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Left ventricular noncompaction 10 ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) AND not provided 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
rs193068692 dbSNP
Genome
hg38
Position
chr11:47,350,041-47,350,041
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs193068692
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0025
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
42
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
916
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002183406113537118
Chromosome Counts in All Race (ExAC)
24132
Allele Counts in All Race (ExAC)
39
Heterozygous Counts in All Race (ExAC)
39
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0016161113873694678
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