chr19:1220490:C>A Detail (hg38) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,220,489-1,220,489 View the variant detail on this assembly version. |
| hg38 | chr19:1,220,490-1,220,490 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.582C>A | NP_000446.1:p.Asp194Glu |
| Ensemble | ENST00000326873.12:c.582C>A | ENST00000326873.12:p.Asp194Glu |
| ENST00000585465.3:c.582C>A | ENST00000585465.3:p.Asp194Glu |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2022/01/20 | other |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2022/01/20 | colon, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-06-25 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | not provided |
unknown
|
Detail | |
|
Likely pathogenic
|
2021-04-06 | criteria provided, single submitter | Peutz-Jeghers syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | Neoplasm of the pancreas |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| pancreatic cancer | Everolimus | C |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 2 | 21189378 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case study of a 46-year old male patient with Peutz-Jeghers Syndrome and pancreatic cancer. A germli... | CIViC Evidence | Detail |
| NM_000455.5(STK11):c.582C>A (p.Asp194Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.582C>A (p.Asp194Glu) AND not provided | ClinVar | Detail |
| NM_000455.5(STK11):c.582C>A (p.Asp194Glu) AND Peutz-Jeghers syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.582C>A (p.Asp194Glu) AND Neoplasm of the pancreas | 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
- rs786202134 dbSNP
- Genome
- hg38
- Position
- chr19:1,220,490-1,220,490
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- D194E
- Transcript 1 (CIViC Variant)
- ENST00000326873.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/634
Genome browser