chr14:23887607:G>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,887,607-23,887,607
hg38 chr14:23,418,398-23,418,398 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.3981C>A NP_000248.2:p.Asn1327Lys
Ensemble ENST00000713769.1:c.3981C>A ENST00000713769.1:p.Asn1327Lys
ENST00000355349.4:c.3981C>A ENST00000355349.4:p.Asn1327Lys
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 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
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 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline unknown Detail
Likely benign 2014-10-08 criteria provided, single submitter not specified germline Detail
Likely benign 2019-03-09 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2023-07-18 criteria provided, conflicting interpretations not provided germline Detail
Likely benign 2024-02-05 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 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
Uncertain significance 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
Uncertain significance 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
Uncertain significance 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
Uncertain significance 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
Uncertain significance 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 benign 2018-10-02 criteria provided, single submitter Ventricular fibrillation germline Detail
Likely benign 2020-04-24 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Benign 2017-04-27 criteria provided, single submitter MYH7-related skeletal myopathy germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Myosin storage myopathy germline Detail
Likely benign 2023-05-10 criteria provided, single submitter MYH7-related disorder 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.3981C>A (p.Asn1327Lys) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND not specified ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Ventricular fibrillation ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND Myosin storage myopathy ClinVar Detail
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND MYH7-related disorder 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
rs141764279 dbSNP
Genome
hg19
Position
chr14:23,887,607-23,887,607
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8456
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)
115980
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0346611484738747E-4
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