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 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic 2017/03/30 cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
not provided cardiofaciocutaneous syndrome not provided MGS000079
(TMGS000160) 		Noriko Miyake National Center for Global Health and Medicine
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

DescrptionSourceLinks
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