chr7:140753349:C>A Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,149-140,453,149 View the variant detail on this assembly version. |
| hg38 | chr7:140,753,349-140,753,349 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1906G>T | NP_004324.2:p.Gly636Cys |
| Ensemble | ENST00000288602.11:c.1906G>T | ENST00000288602.11:p.Gly636Cys |
| ENST00000496384.7:c.1786G>T | ENST00000496384.7:p.Gly596Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2016-02-11 | no assertion criteria provided | not specified |
germline
|
Detail |
|
Uncertain significance
|
2021-03-23 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
Likely pathogenic
|
2022-03-11 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Dabrafenib,Trametinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 27577079 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| non-V600 BRAF mutations can be sensitive to clinically relevant doses of Dabrafenib and Trametinib i... | CIViC Evidence | Detail |
| NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) AND not specified | ClinVar | Detail |
| NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) AND RASopathy | ClinVar | 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
- rs121913361 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,349-140,753,349
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G596C
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/694
Genome browser