chr14:23902865:G>A Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,902,865-23,902,865
hg38 chr14:23,433,656-23,433,656 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.77C>T NP_000248.2:p.Ala26Val
Ensemble ENST00000355349.4:c.77C>T ENST00000355349.4:p.Ala26Val
ENST00000713768.1:c.77C>T ENST00000713768.1:p.Ala26Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.007
ToMMo:0.004
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.007

Prediction

ClinVar

Clinical Significance Benign
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 tgv50141140 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic CFTD germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2015-08-11 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2013-06-24 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline unknown Detail
Conflicting interpretations of pathogenicity 2017-04-27 criteria provided, conflicting interpretations hypertrophic cardiomyopathy 1 germline unknown Detail
Benign 2024-01-16 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter dilated cardiomyopathy 1S germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Left ventricular noncompaction cardiomyopathy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter MYH7-related skeletal myopathy germline Detail
Likely benign 2016-10-27 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline Detail
Benign 2016-12-15 reviewed by expert panel cardiomyopathy germline Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2022-05-24 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Likely benign 2017-04-27 criteria provided, single submitter Myosin storage myopathy 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
0.163 Cardiomyopathies The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chi... BeFree 19645038 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Mutations profile in Chinese patients with hypertrophic cardiomyopathy. UNIPROT 15563892 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND not specified ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Left ventricular noncompaction cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Myosin storage myopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highligh... DisGeNET Detail
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 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
rs186964570 dbSNP
Genome
hg19
Position
chr14:23,902,865-23,902,865
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
54.87
Standard deviation of sample read depth (HGVD)
25.53
Number of reference allele (HGVD)
2398
Number of alternative allele (HGVD)
16
Allele Frequency (HGVD)
0.006628003314001657
Gene Symbol (HGVD)
MYH7
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs186964570
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
65
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
60
East Asian Heterozygous Counts (ExAC)
60
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.006939625260235947
Chromosome Counts in All Race (ExAC)
121330
Allele Counts in All Race (ExAC)
69
Heterozygous Counts in All Race (ExAC)
69
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.686969422236875E-4
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