chr7:140453154:T>C Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,154-140,453,154 |
| hg38 | chr7:140,753,354-140,753,354 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1901A>G | NP_004324.2:p.Asp634Gly |
| Ensemble | ENST00000288602.11:c.1901A>G | ENST00000288602.11:p.Asp634Gly |
| ENST00000496384.7:c.1781A>G | ENST00000496384.7:p.Asp594Gly |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 43 |
| 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
|
pyloric antrum |
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
|
bronchus or lung, unspecified |
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
|
caecum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
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
|
sigmoid colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
small intestine, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
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
|
descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
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
|
2012-06-11 | criteria provided, single submitter | Non-small cell lung carcinoma |
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 | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
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 |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
Uncertain significance
|
2021-08-03 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 1 | 27404270 | Detail | |
| colorectal cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 2 | 27404270 | Detail | |
| colorectal cancer | Panitumumab,Cetuximab | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 1 | 27404270 | Detail |
| colorectal cancer | Cetuximab,Irinotecan | C |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 26989027 | Detail |
| skin melanoma | Sorafenib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 18794803 | Detail |
| skin melanoma | U0126 | D |
Predictive
|
Supports
|
Resistance | 3 | 18794803 | Detail | |
| Solid Tumor | Vemurafenib | D |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 3 | 28783719 | Detail |
| cancer | Trametinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 28783719 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.242 | Lymphoma, Non-Hodgkin | NA | CLINVAR | Detail | |
| 0.001 | Melanocytic nevus of skin | The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... | BeFree | 15009715 | Detail |
| 0.004 | Nevus | The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... | BeFree | 15009715 | Detail |
| 0.001 | Benign melanocytic nevus | The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... | BeFree | 15009715 | Detail |
| 0.002 | follicular adenoma | BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... | BeFree | 19269016 | Detail |
| 0.120 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.002 | Thyroid Gland Follicular Adenoma | BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... | BeFree | 19269016 | Detail |
| 0.015 | Malignant neoplasm of lung | The three most common BRAF mutations in lung cancers accounted for only 41% of t... | BeFree | 26386083 | Detail |
| 0.125 | Carcinoma of lung | The three most common BRAF mutations in lung cancers accounted for only 41% of t... | BeFree | 26386083 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.001 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| 0.002 | Papillary microcarcinoma | BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... | BeFree | 19269016 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a study of 908 patients with colorectal cancer, 7 patients had BRAF (D594G) mutations and 45 pati... | CIViC Evidence | Detail |
| In a study of 908 patients with colorectal cancer (CRC), 7 patients had BRAF D595G mutations and 589... | CIViC Evidence | Detail |
| Two patients with stage IV BRAF (D594G) mutations received anti-EGFR antibody therapy (cetuximab and... | CIViC Evidence | Detail |
| In a retrospective study of 53, KRAS exon 2 wild-type, metastatic colorectal cancer patients, patien... | CIViC Evidence | Detail |
| In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations ... | CIViC Evidence | Detail |
| In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations ... | CIViC Evidence | Detail |
| RAF inhibitor vemurafenib failed to inhibit ERK signaling in tumor cells and NIH3T3 that express cla... | CIViC Evidence | Detail |
| In a BRAF-mutation inducible model in the NIH3T3 cell line, class 3 BRAF mutations (G466V, G466E, D5... | CIViC Evidence | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Non-Hodgkin lymphoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Multiple myeloma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Neoplasm of brain | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND RASopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... | DisGeNET | Detail |
| The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... | DisGeNET | Detail |
| The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... | DisGeNET | Detail |
| BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... | DisGeNET | Detail |
| The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... | DisGeNET | Detail |
| The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... | 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
- rs121913338 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,154-140,453,154
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- D594G
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/611
- Summary (CIViC Variant)
- This BRAF mutation has a markedly reduced kinase activity and leads to paradoxical MEK-pathway activation via CRAF binding.
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