chr7:140778013:T>C Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,813-140,477,813 View the variant detail on this assembly version.
hg38 chr7:140,778,013-140,778,013

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1615A>G NP_004324.2:p.Lys539Glu
Ensemble ENST00000288602.11:c.1615A>G ENST00000288602.11:p.Lys539Glu
ENST00000646891.2:c.1495A>G ENST00000646891.2:p.Lys499Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM6966704 COSMIC
MONDO
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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-22 criteria provided, multiple submitters, no conflicts cardiofaciocutaneous syndrome 1 de novo germline Detail
Pathogenic Likely pathogenic 2018-08-09 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2018-04-09 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2016-12-12 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline 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 In one patient with NS, we also identified a mutation, BRAF K499E, that has prev... BeFree 18456719 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NA DisGeNET Detail
In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported... 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
rs180177037 dbSNP
Genome
hg38
Position
chr7:140,778,013-140,778,013
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser