chr7:140481403:C>G Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,481,403-140,481,403 |
| hg38 | chr7:140,781,603-140,781,603 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1525G>C | NP_004324.2:p.Gly509Arg |
| Ensemble | ENST00000288602.11:c.1525G>C | ENST00000288602.11:p.Gly509Arg |
| ENST00000496384.7:c.1405G>C | ENST00000496384.7:p.Gly469Arg |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
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
|
2003-11-17 | no assertion criteria provided | non-Hodgkin lymphoma |
somatic
|
Detail |
|
Pathogenic
|
2012-12-17 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2021-10-17 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.242 | Lymphoma, Non-Hodgkin | NA | CLINVAR | Detail | |
| 0.131 | Non-small cell lung carcinoma | We present a case report of a patient with NSCLC and the BRAF G469R mutation who... | BeFree | 26237499 | Detail |
| 0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Non-Hodgkin lymphoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Multiple myeloma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We present a case report of a patient with NSCLC and the BRAF G469R mutation who showed a dramatic r... | 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
- rs121913357 dbSNP
- Genome
- hg19
- Position
- chr7:140,481,403-140,481,403
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- G469R
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/840
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