chr17:7579329:T>C Detail (hg19) (TP53)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,579,329-7,579,329 |
| hg38 | chr17:7,676,011-7,676,011 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000546.5:c.358A>G | NP_000537.3:p.Lys120Glu |
| NM_001126112.2:c.358A>G | NP_001119584.1:p.Lys120Glu | |
| NM_001276760.1:c.358A>G | NP_001263689.1:p.Lys120Glu |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 5 |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-05-02 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Likely pathogenic
|
2020-11-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
2023-11-27 | criteria provided, single submitter | Li-Fraumeni syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Likely pathogenic
|
2024-02-13 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.126 | Li-fraumeni-like syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000546.6(TP53):c.358A>G (p.Lys120Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.358A>G (p.Lys120Glu) AND not provided | ClinVar | Detail |
| NM_000546.6(TP53):c.358A>G (p.Lys120Glu) AND Li-Fraumeni syndrome | ClinVar | Detail |
| NM_000546.6(TP53):c.358A>G (p.Lys120Glu) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000546.6(TP53):c.358A>G (p.Lys120Glu) AND Li-Fraumeni syndrome 1 | 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
- rs121912658 dbSNP
- Genome
- hg19
- Position
- chr17:7,579,329-7,579,329
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser