chr14:23432713:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,901,922-23,901,922 View the variant detail on this assembly version.
hg38 chr14:23,432,713-23,432,713

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.428G>A NP_000248.2:p.Arg143Gln
Ensemble ENST00000355349.4:c.428G>A ENST00000355349.4:p.Arg143Gln
ENST00000713768.1:c.428G>A ENST00000713768.1:p.Arg143Gln
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2015-05-18 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2023-07-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2022-01-03 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Likely pathogenic 2015-12-16 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2023-12-27 criteria provided, single submitter germline Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Likely pathogenic 2021-08-24 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,hypertrophic cardiomyopathy 1,Myosin storage myopathy unknown Detail
Pathogenic 2021-08-11 criteria provided, single submitter 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
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) AND Cardiomyopathy ClinVar Detail
NA DisGeNET 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
rs397516209 dbSNP
Genome
hg38
Position
chr14:23,432,713-23,432,713
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)
121400
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)
8.237232289950576E-6
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