chr14:23424839:C>T Detail (hg38) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,048-23,894,048 View the variant detail on this assembly version.
hg38 chr14:23,424,839-23,424,839

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2609G>A NP_000248.2:p.Arg870His
Ensemble ENST00000355349.4:c.2609G>A ENST00000355349.4:p.Arg870His
ENST00000713768.1:c.2609G>A ENST00000713768.1:p.Arg870His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 160760 OMIM
HGNC 7577 HGNC
Ensembl ENSG00000092054 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6040764 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2017-07-10 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2023-07-10 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-11-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter hypertrophic cardiomyopathy unknown Detail
Pathogenic 2021-04-27 no assertion criteria provided Arrhythmogenic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.163 Cardiomyopathies In a small cohort of HCM patients (n=8), we searched for mutations in the two mo... BeFree 23816408 Detail
0.252 Cardiomyopathy, Hypertrophic, Familial A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial... BeFree 17703256 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Mutation spectrum in a large cohort of unrelated consecutive patients with hyper... UNIPROT 12974739 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) ... UNIPROT 10862102 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) AND Arrhythmogenic cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes resp... DisGeNET Detail
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardio... DisGeNET Detail
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopat... DisGeNET Detail
Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial ... 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
rs36211715 dbSNP
Genome
hg38
Position
chr14:23,424,839-23,424,839
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121388
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.238046594391538E-6
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