chr14:23424842:C>T Detail (hg38) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,051-23,894,051 View the variant detail on this assembly version.
hg38 chr14:23,424,842-23,424,842

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2606G>A NP_000248.2:p.Arg869His
Ensemble ENST00000355349.4:c.2606G>A ENST00000355349.4:p.Arg869His
ENST00000713768.1:c.2606G>A ENST00000713768.1:p.Arg869His
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 Likely 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 tgv386543290 TogoVar
COSMIC COSM4050071 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-09-28 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Conflicting interpretations of pathogenicity 2022-03-01 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2017-07-06 criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Pathogenic Likely pathogenic 2020-01-27 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2023-08-22 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely pathogenic 2023-03-30 criteria provided, single submitter germline Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-21 criteria provided, single submitter Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.163 Cardiomyopathies In a small cohort of HCM patients (n=8), we searched for mutations in the two mo... BeFree 23816408 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated pati... UNIPROT 15358028 Detail
0.252 Cardiomyopathy, Hypertrophic, Familial A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial... BeFree 17703256 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) AND multiple conditions ClinVar Detail
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes resp... DisGeNET Detail
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertroph... DisGeNET Detail
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardio... 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
rs202141173 dbSNP
Genome
hg38
Position
chr14:23,424,842-23,424,842
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)
121390
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295164346321773E-5
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