chr1:45797401:G>A Detail (hg19) (MUTYH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:45,797,401-45,797,401 |
| hg38 | chr1:45,331,729-45,331,729 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001048174.1:c.1034C>T | NP_001041639.1:p.Ala345Val |
| NM_001293191.1:c.1034C>T | NP_001280120.1:p.Ala345Val | |
| NM_001048171.1:c.1076C>T | NP_001041636.1:p.Ala359Val |
Summary
MGeND
| Clinical significance |
Benign
Uncertain significance
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.009 |
| ToMMo:0.008 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.005 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
Colorectal |
germline
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
unknown
germline
|
Detail |
|
Likely benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
germline
unknown
|
Detail |
|
Benign
Likely benign
|
2021-05-16 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely benign
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2019-03-28 | criteria provided, single submitter | MUTYH-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.480 | Colorectal Adenomatous Polyposis, Autosomal Recessive | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND not provided | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND not specified | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) AND MUTYH-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
- rs35352891 dbSNP
- Genome
- hg19
- Position
- chr1:45,797,401-45,797,401
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 186.25
- Standard deviation of sample read depth (HGVD)
- 86.01
- Number of reference allele (HGVD)
- 2396
- Number of alternative allele (HGVD)
- 22
- Allele Frequency (HGVD)
- 0.009098428453267164
- Gene Symbol (HGVD)
- MUTYH
- 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))
- rs35352891
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0077
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 129
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8600
- East Asian Allele Counts (ExAC)
- 40
- East Asian Heterozygous Counts (ExAC)
- 40
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.004651162790697674
- Chromosome Counts in All Race (ExAC)
- 119474
- Allele Counts in All Race (ExAC)
- 46
- Heterozygous Counts in All Race (ExAC)
- 46
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.8502100875504295E-4
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