chr11:47349804:C>G Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,371,355-47,371,355 View the variant detail on this assembly version.
hg38 chr11:47,349,804-47,349,804

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.624G>C NP_000247.2:p.Gln208His
Ensemble ENST00000399249.6:c.624G>C ENST00000399249.6:p.Gln208His
ENST00000545968.6:c.624G>C ENST00000545968.6:p.Gln208His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-05-08 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2014-06-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Conflicting interpretations of pathogenicity 2023-01-13 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-29 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline Detail
Conflicting interpretations of pathogenicity 2023-01-03 criteria provided, conflicting interpretations cardiomyopathy germline Detail
Uncertain significance 2019-05-28 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline unknown Detail
Likely benign 2017-04-27 criteria provided, single submitter Left ventricular noncompaction 10 germline Detail
Likely benign 2018-04-19 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.624G>C (p.Gln208His) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) AND Left ventricular noncompaction 10 ClinVar Detail
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) 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
rs202139499 dbSNP
Genome
hg38
Position
chr11:47,349,804-47,349,804
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8338
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)
110910
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.622937516905599E-4
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