chr14:23414101:G>A Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,883,310-23,883,310 View the variant detail on this assembly version.
hg38 chr14:23,414,101-23,414,101

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.5561C>T NP_000248.2:p.Thr1854Met
Ensemble ENST00000355349.4:c.5561C>T ENST00000355349.4:p.Thr1854Met
ENST00000713768.1:c.5561C>T ENST00000713768.1:p.Thr1854Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv50138361 TogoVar
COSMIC COSM552681 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 2023-06-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2023-12-22 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline Detail
Conflicting interpretations of pathogenicity 2023-11-27 criteria provided, conflicting interpretations cardiomyopathy germline Detail
Uncertain significance 2024-02-13 criteria provided, single submitter 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.5561C>T (p.Thr1854Met) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) AND Cardiovascular phenotype 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
rs372381770 dbSNP
Genome
hg38
Position
chr14:23,414,101-23,414,101
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs372381770
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
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)
121130
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.302237265747544E-5
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