chr11:47364621:G>A Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,364,621-47,364,621
hg38 chr11:47,343,070-47,343,070 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.1302C>T NP_000247.2:p.Tyr434=
Ensemble ENST00000399249.6:c.1302C>T ENST00000399249.6:p.Tyr434=
ENST00000545968.6:c.1302C>T ENST00000545968.6:p.Tyr434=
Summary

MGeND

Clinical significance
Variant entry
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 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 tgv42452481 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-05-29 criteria provided, single submitter not provided germline Detail
Benign Likely benign 2024-01-29 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Likely benign 2018-10-08 criteria provided, single submitter cardiomyopathy germline Detail
Benign 2022-04-12 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) 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
rs190228518 dbSNP
Genome
hg19
Position
chr11:47,364,621-47,364,621
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
133.95
Standard deviation of sample read depth (HGVD)
66.55
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1356492969396195E-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))
rs190228518
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0008
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7924
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
9
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0011357900050479556
Chromosome Counts in All Race (ExAC)
108402
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.302429844467815E-5
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