chr11:47369975:C>T Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,369,975-47,369,975
hg38 chr11:47,348,424-47,348,424 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.772G>A NP_000247.2:p.Glu258Lys
Ensemble ENST00000399249.6:c.772G>A ENST00000399249.6:p.Glu258Lys
ENST00000545968.6:c.772G>A ENST00000545968.6:p.Glu258Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv42452980 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic HCM germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-12-12 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-12-07 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline somatic Detail
Pathogenic 2022-03-30 criteria provided, single submitter germline Detail
Pathogenic 2022-09-21 criteria provided, multiple submitters, no conflicts Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 germline unknown Detail
Pathogenic 2022-09-21 criteria provided, multiple submitters, no conflicts Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4 germline unknown Detail
Pathogenic 2023-05-30 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2021-11-02 no assertion criteria provided Left ventricular noncompaction 10 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 4 NA CLINVAR Detail
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) AND Left ventricular noncompaction 10 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
rs397516074 dbSNP
Genome
hg19
Position
chr11:47,369,975-47,369,975
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs397516074
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
5252
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
76868
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.902794400790966E-5
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