chr7:140481411:C>T Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,481,411-140,481,411 |
| hg38 | chr7:140,781,611-140,781,611 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1517G>A | NP_004324.2:p.Gly506Glu |
| Ensemble | ENST00000496384.7:c.1397G>A | ENST00000496384.7:p.Gly466Glu |
| ENST00000288602.11:c.1517G>A | ENST00000288602.11:p.Gly506Glu |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 8 |
| 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
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
extrahepatic bile duct |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
Pathogenic
|
Others |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
not provided
|
ill-defined sites within the digestive system |
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 |
|---|---|---|---|---|---|
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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
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
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
Uncertain significance
|
2021-02-14 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Likely pathogenic
|
2023-01-23 | criteria provided, single submitter | Noonan syndrome 7 |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.055 | adenocarcinoma | Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed m... | BeFree | 12460919 | Detail |
| 0.244 | Adenocarcinoma of lung (disorder) | NA | CLINVAR | Detail | |
| 0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Multiple myeloma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Noonan syndrome 7 | ClinVar | Detail |
| Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumo... | DisGeNET | 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
- rs121913351 dbSNP
- Genome
- hg19
- Position
- chr7:140,481,411-140,481,411
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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