chr7:140778054:A>G Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,477,854-140,477,854 View the variant detail on this assembly version. |
| hg38 | chr7:140,778,054-140,778,054 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1574T>C | NP_004324.2:p.Leu525Ser |
| Ensemble | ENST00000288602.11:c.1574T>C | ENST00000288602.11:p.Leu525Ser |
| ENST00000496384.7:c.1454T>C | ENST00000496384.7:p.Leu485Ser |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
cardiofaciocutaneous syndrome |
germline
|
MGS000001
(TMGS000183) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2023-07-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2019-08-19 | criteria provided, multiple submitters, no conflicts | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2020-02-27 | reviewed by expert panel | RASopathy |
germline
|
Detail |
|
Likely pathogenic
|
2018-04-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
|
Likely pathogenic
|
2022-03-10 | criteria provided, single submitter | Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail | |
| 0.567 | Cardio-facio-cutaneous syndrome | A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c... | BeFree | 20395089 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) e... | 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
- rs397507475 dbSNP
- Genome
- hg38
- Position
- chr7:140,778,054-140,778,054
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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