chr7:140801502:T>C Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,501,302-140,501,302 View the variant detail on this assembly version. |
| hg38 | chr7:140,801,502-140,801,502 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.770A>G | NP_004324.2:p.Gln257Arg |
| Ensemble | ENST00000288602.11:c.770A>G | ENST00000288602.11:p.Gln257Arg |
| ENST00000496384.7:c.770A>G | ENST00000496384.7:p.Gln257Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2017/03/30 | cardiofaciocutaneous syndrome |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | |||
|
Pathogenic
|
cardiofaciocutaneous syndrome |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
not provided
|
cardiofaciocutaneous syndrome |
not provided
|
MGS000079
(TMGS000160) |
Noriko Miyake | National Center for Global Health and Medicine | ||||
|
Pathogenic
|
noonan syndrome |
germline
|
MGS000073
(TMGS000185) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-03-26 | criteria provided, multiple submitters, no conflicts | cardiofaciocutaneous syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-09-19 | criteria provided, multiple submitters, no conflicts | RASopathy |
de novo
germline
|
Detail |
|
Pathogenic
|
2022-12-19 | criteria provided, multiple submitters, no conflicts | not provided |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2017-04-03 | reviewed by expert panel | Cardio-facio-cutaneous syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-08-13 | criteria provided, single submitter | LEOPARD syndrome 3,Noonan syndrome 7,cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2019-08-13 | criteria provided, single submitter | LEOPARD syndrome 3,Noonan syndrome 7,cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2019-08-13 | criteria provided, single submitter | LEOPARD syndrome 3,Noonan syndrome 7,cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2023-06-16 | criteria provided, multiple submitters, no conflicts | Noonan syndrome 7 |
de novo
germline
|
Detail |
|
Pathogenic
|
2019-08-02 | criteria provided, single submitter | LEOPARD syndrome 3 |
unknown
|
Detail |
|
Pathogenic
|
2018-04-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-01-05 | criteria provided, single submitter | Noonan syndrome 1 |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, single submitter | LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,lung cancer,Noonan syndrome 7,cardiofaciocutaneous syndrome 1,colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2024-01-05 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail | |
| 0.360 | Noonan syndrome 7 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Noonan syndrome 7 | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND LEOPARD syndrome 3 | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Noonan syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) AND Cardiovascular phenotype | ClinVar | Detail |
| NA | 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
- rs180177035 dbSNP
- Genome
- hg38
- Position
- chr7:140,801,502-140,801,502
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser