chr11:47349782:C>T Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,371,333-47,371,333 View the variant detail on this assembly version.
hg38 chr11:47,349,782-47,349,782

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.646G>A NP_000247.2:p.Ala216Thr
Ensemble ENST00000399249.6:c.646G>A ENST00000399249.6:p.Ala216Thr
ENST00000545968.6:c.646G>A ENST00000545968.6:p.Ala216Thr
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 600958 OMIM
HGNC 7551 HGNC
Ensembl ENSG00000134571 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42453082 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2021-06-21 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2016-12-20 criteria provided, multiple submitters, no conflicts Primary familial hypertrophic cardiomyopathy germline Detail
Likely benign 2023-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2018-08-27 criteria provided, single submitter germline Detail
Benign 2023-06-02 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2024-01-31 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Likely benign 2019-08-14 criteria provided, single submitter hypertrophic cardiomyopathy 4 germline Detail
Likely benign 2019-08-14 criteria provided, single submitter Left ventricular noncompaction 10 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.646G>A (p.Ala216Thr) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Cardiovascular phenotype ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Hypertrophic cardiomyopathy 4 ClinVar Detail
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) AND Left ventricular noncompaction 10 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
rs201098973 dbSNP
Genome
hg38
Position
chr11:47,349,782-47,349,782
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs201098973
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))
16758
East Asian Chromosome Counts (ExAC)
8266
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)
109458
Allele Counts in All Race (ExAC)
40
Heterozygous Counts in All Race (ExAC)
40
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.654369712583822E-4
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