chr11:47342750:C>T Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,364,301-47,364,301 View the variant detail on this assembly version.
hg38 chr11:47,342,750-47,342,750

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.1458-6G>A
Ensemble ENST00000399249.6:c.1458-6G>A
ENST00000545968.6:c.1458-6G>A
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 600958 OMIM
HGNC 7551 HGNC
Ensembl ENSG00000134571 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv216911655 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-08-29 criteria provided, single submitter not specified germline Detail
Uncertain significance 2015-01-07 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-10-27 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2017-05-31 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 4 germline Detail
Uncertain significance 2020-09-08 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-02-15 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.1458-6G>A AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.1458-6G>A AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1458-6G>A AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1458-6G>A AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.1458-6G>A AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.1458-6G>A AND Cardiomyopathy ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs375347534 dbSNP
Genome
hg38
Position
chr11:47,342,750-47,342,750
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1598237067965669E-4
Chromosome Counts in All Race (ExAC)
120164
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.657567990413102E-5
Genome browser