chr14:23425316:C>T Detail (hg38) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,525-23,894,525 View the variant detail on this assembly version.
hg38 chr14:23,425,316-23,425,316

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2389G>A NP_000248.2:p.Ala797Thr
Ensemble ENST00000355349.4:c.2389G>A ENST00000355349.4:p.Ala797Thr
ENST00000713768.1:c.2389G>A ENST00000713768.1:p.Ala797Thr
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 Pathogenic 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 tgv386543309 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-06-01 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic Likely pathogenic 2023-07-02 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-07-17 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Pathogenic 2024-01-28 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-10-02 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,Myosin storage myopathy,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-30 criteria provided, single submitter germline Detail
Likely pathogenic 2017-07-14 no assertion criteria provided Wolff-Parkinson-White pattern inherited Detail
Likely pathogenic criteria provided, single submitter Severe combined immunodeficiency disease,combined immunodeficiency germline Detail
Likely pathogenic criteria provided, single submitter Severe combined immunodeficiency disease,combined immunodeficiency germline Detail
Pathogenic criteria provided, single submitter Primary familial dilated cardiomyopathy germline Detail
Pathogenic 2023-04-20 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2023-07-17 criteria provided, single submitter dilated cardiomyopathy 1S unknown Detail
Pathogenic 2023-07-22 criteria provided, single submitter MYH7-related skeletal myopathy unknown Detail
Pathogenic 2023-07-22 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2023-07-22 criteria provided, single submitter Myosin storage myopathy unknown Detail
Pathogenic 2023-06-13 criteria provided, multiple submitters, no conflicts MYH7-related disorder 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
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) The origins of hypertrophic cardiomyopathy-causing mutations in two South Africa... UNIPROT 10521296 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Wolff-Parkinson-White pattern ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Primary familial dilated cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Myopathy, myosin storage, autosomal recessive ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND Myosin storage myopathy ClinVar Detail
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) AND MYH7-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a ... 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
rs3218716 dbSNP
Genome
hg38
Position
chr14:23,425,316-23,425,316
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)
121372
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)
3.2956530336486173E-5
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