chr7:140453155:C>T Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,155-140,453,155 |
| hg38 | chr7:140,753,355-140,753,355 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1900G>A | NP_004324.2:p.Asp634Asn |
| Ensemble | ENST00000496384.7:c.1780G>A | ENST00000496384.7:p.Asp594Asn |
| ENST00000288602.11:c.1900G>A | ENST00000288602.11:p.Asp634Asn |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 18 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
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
|
jejunum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
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
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
upper third of oesophagus |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
jejunum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
anal canal |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
extrahepatic bile duct |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Serous surface papillary carcinoma (morphologic abnormality)_Primary malignant neoplasm of ovary (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
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
|
2010-05-13 | criteria provided, single submitter | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
somatic
|
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 | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
Pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
Uncertain significance
|
2022-07-29 | no assertion criteria provided | Prostate cancer, hereditary, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | multiple myeloma | Interestingly, we detected a novel BRAF D594N mutation in one patient with multi... | BeFree | 21910720 | Detail |
| 0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Neoplasm of brain | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Multiple myeloma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Prostate cancer, hereditary, 1 | ClinVar | Detail |
| Interestingly, we detected a novel BRAF D594N mutation in one patient with multiple myeloma. | 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
- rs397516896 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,155-140,453,155
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- D594N
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1107
Genome browser