chr14:23415225:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,884,434-23,884,434 View the variant detail on this assembly version.
hg38 chr14:23,415,225-23,415,225

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.5329G>A NP_000248.2:p.Ala1777Thr
Ensemble ENST00000355349.4:c.5329G>A ENST00000355349.4:p.Ala1777Thr
ENST00000713768.1:c.5329G>A ENST00000713768.1:p.Ala1777Thr
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 Uncertain significance
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-11-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely pathogenic 2015-04-24 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline unknown Detail
Pathogenic 2014-01-01 no assertion criteria provided Idiopathic camptocormia unknown Detail
Uncertain significance 2024-01-27 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-10-21 criteria provided, single submitter germline Detail
Uncertain significance 2022-02-01 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Uncertain significance 2021-11-30 reviewed by expert panel cardiomyopathy germline Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2021-07-19 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Uncertain significance 2023-08-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND not specified ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Idiopathic camptocormia ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND not provided 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
rs200939753 dbSNP
Genome
hg38
Position
chr14:23,415,225-23,415,225
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.118276912939626E-5
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