chr14:23884458:G>T Detail (hg19) (MYH7, LOC126861897)

Information

Genome

Assembly Position
hg19 chr14:23,884,458-23,884,458
hg38 chr14:23,415,249-23,415,249 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.5305C>A NP_000248.2:p.Leu1769Met
Ensemble ENST00000713769.1:c.5305C>A ENST00000713769.1:p.Leu1769Met
ENST00000355349.4:c.5305C>A ENST00000355349.4:p.Leu1769Met
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 2014-06-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2020-10-08 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-08-25 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Uncertain significance 2024-02-05 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown Detail
Uncertain significance 2021-09-01 criteria provided, single submitter Myosin storage myopathy,Myopathy, myosin storage, autosomal recessive,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1 unknown 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.5305C>A (p.Leu1769Met) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) AND multiple conditions 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
rs139222507 dbSNP
Genome
hg19
Position
chr14:23,884,458-23,884,458
Variant Type
snv
Reference Allele
G
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)
121410
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)
8.236553825879253E-6
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