chr7:140481411:C>A 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>T | NP_004324.2:p.Gly506Val |
Ensemble | ENST00000288602.11:c.1517G>T | ENST00000288602.11:p.Gly506Val |
ENST00000646891.2:c.1397G>T | ENST00000646891.2:p.Gly466Val |
Summary
MGeND
Clinical significance |
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Variant entry | 7 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Non-small cell lung cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | Non-small cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2014-10-02 | no assertion criteria provided | lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
cancer | Vemurafenib | C |
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Sensitivity/Response | Somatic | 2 | 29320312 | Detail |
colorectal cancer | Panitumumab,Irinotecan | D |
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Sensitivity/Response | Somatic | 3 | 28783719 | Detail |
colorectal cancer | Vemurafenib | D |
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Sensitivity/Response | Somatic | 3 | 28783719 | Detail |
Solid Tumor | Vemurafenib | D |
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Sensitivity/Response | Somatic | 3 | 28783719 | Detail |
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 |
---|---|---|
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... | CIViC Evidence | Detail |
In the study with a tumor from a patient with metastatic colorectal cancer BRAF (G466V) and wild-typ... | CIViC Evidence | Detail |
In the study with a tumor from a patient with metastatic colorectal cancer BRAF (G466V) and wild-typ... | CIViC Evidence | Detail |
RAF inhibitor vemurafenib failed to inhibit ERK signaling in tumor cells and NIH3T3 that express cla... | CIViC Evidence | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Lung adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Multiple myeloma | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Malignant melanoma of skin | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Lung carcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Squamous cell lung carcinoma | 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 |
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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
- A
- Variant (CIViC) (CIViC Variant)
- G466V
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2222
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