chr11:47351308:C>T Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,372,859-47,372,859 View the variant detail on this assembly version. |
| hg38 | chr11:47,351,308-47,351,308 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.223G>A | NP_000247.2:p.Asp75Asn |
| Ensemble | ENST00000399249.6:c.223G>A | ENST00000399249.6:p.Asp75Asn |
| ENST00000545968.6:c.223G>A | ENST00000545968.6:p.Asp75Asn |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
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
|
2019-07-12 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2019-05-28 | criteria provided, single submitter | hypertrophic cardiomyopathy 4 |
germline
unknown
|
Detail |
|
Uncertain significance
|
2024-01-20 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2022-09-30 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2019-01-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-02-22 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2023-10-20 | criteria provided, single submitter | MYBPC3-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Cardiomyopathy, Familial Hypertrophic, 4 | NA | CLINVAR | Detail | |
| 0.247 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND not specified | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND Hypertrophic cardiomyopathy 4 | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND Cardiomyopathy | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) AND MYBPC3-related disorder | ClinVar | Detail |
| NA | DisGeNET | 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
- rs375471260 dbSNP
- Genome
- hg38
- Position
- chr11:47,351,308-47,351,308
- 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))
- rs375471260
- 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)
- 1550
- 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)
- 32862
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.129085265656382E-5
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