chr7:140781617:C>A Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,417-140,481,417 View the variant detail on this assembly version.
hg38 chr7:140,781,617-140,781,617

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1511G>T NP_004324.2:p.Gly504Val
Ensemble ENST00000288602.11:c.1511G>T ENST00000288602.11:p.Gly504Val
ENST00000496384.7:c.1391G>T ENST00000496384.7:p.Gly464Val
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
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 COSM450 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance Langerhans cell histiocytosis (LCH) somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Uncertain significance acute lymphoblastic leukaemia (ALL) somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-10-27 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2011-05-03 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2020-02-28 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2018-04-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2022-05-22 criteria provided, single submitter cardiofaciocutaneous syndrome 1 germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Vemurafenib C Predictive Does Not Support Sensitivity/Response Somatic 2 29320312 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.055 adenocarcinoma Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed m... BeFree 12460919 Detail
0.135 colon carcinoma NA CLINVAR Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... CIViC Evidence Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND Breast neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND Neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NA DisGeNET Detail
Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumo... DisGeNET 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
rs121913348 dbSNP
Genome
hg38
Position
chr7:140,781,617-140,781,617
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
G464V
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1106
Genome browser