chr14:23431602:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,900,811-23,900,811 View the variant detail on this assembly version.
hg38 chr14:23,431,602-23,431,602

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.715G>A NP_000248.2:p.Asp239Asn
Ensemble ENST00000355349.4:c.715G>A ENST00000355349.4:p.Asp239Asn
ENST00000713768.1:c.715G>A ENST00000713768.1:p.Asp239Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM4557120 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-06-27 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2022-01-03 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Pathogenic 2020-07-27 criteria provided, single submitter germline Detail
Likely pathogenic 2021-03-22 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2018-10-31 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 2018-10-31 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 2018-10-31 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 2018-10-31 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 2018-10-31 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 2018-10-31 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 Likely pathogenic 2020-02-14 criteria provided, multiple submitters, no conflicts 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.715G>A (p.Asp239Asn) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) 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
rs397516264 dbSNP
Genome
hg38
Position
chr14:23,431,602-23,431,602
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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