chr7:116423414:A>G Detail (hg19) (MET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:116,423,414-116,423,414 |
| hg38 | chr7:116,783,360-116,783,360 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127500.2:c.3743A>G | NP_001120972.1:p.Tyr1248Cys |
| NM_000245.3:c.3689A>G | NP_000236.2:p.Tyr1230Cys | |
| NM_001324402.1:c.3689A>G | NP_001311331.1:p.Tyr1230Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2023-03-02 | criteria provided, single submitter | Papillary renal cell carcinoma type 1 |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | renal carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | Neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | carcinoma |
somatic
|
Detail |
Uncertain significance
|
2021-09-23 | criteria provided, single submitter | renal cell carcinoma |
germline
|
Detail |
|
Likely pathogenic
|
2021-06-29 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | hereditary renal cell carcinoma | Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose ... | BeFree | 12460923 | Detail |
| 0.253 | renal cell carcinoma | NA | CLINVAR | Detail | |
| <0.001 | hereditary renal cell carcinoma | We identified two somatic mutations: the Y1230C, known as a MET germline mutatio... | BeFree | 10734314 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Renal carcinoma | ClinVar | Detail |
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Neoplasm | ClinVar | Detail |
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Carcinoma | ClinVar | Detail |
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Renal cell carcinoma | ClinVar | Detail |
| NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose to hereditary renal ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified two somatic mutations: the Y1230C, known as a MET germline mutation which predisposes ... | 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
- rs121913246 dbSNP
- Genome
- hg19
- Position
- chr7:116,423,414-116,423,414
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser