chr7:140481417:C>T Detail (hg19) (BRAF)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1511G>A NP_004324.2:p.Gly504Glu
Ensemble ENST00000288602.11:c.1511G>A ENST00000288602.11:p.Gly504Glu
ENST00000496384.7:c.1391G>A ENST00000496384.7:p.Gly464Glu
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM449 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Ovarian cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-08-15 no assertion criteria provided Carcinoma of colon somatic Detail
Pathogenic 2020-03-09 reviewed by expert panel RASopathy germline Detail
Pathogenic Likely pathogenic 2015-10-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2018-02-15 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Likely pathogenic 2018-02-15 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Uncertain significance no assertion criteria provided Cardio-facio-cutaneous syndrome unknown Detail
CIViC
[No Data.]
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
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND Carcinoma of colon ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND Neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND Cardio-facio-cutaneous syndrome 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
hg19
Position
chr7:140,481,417-140,481,417
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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