chr7:140453146:G>C Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,146-140,453,146
hg38 chr7:140,753,346-140,753,346 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1909C>G NP_004324.2:p.Leu637Val
Ensemble ENST00000288602.11:c.1909C>G ENST00000288602.11:p.Leu637Val
ENST00000496384.7:c.1789C>G ENST00000496384.7:p.Leu597Val
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 COSM470 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-21 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2022-06-10 criteria provided, single submitter Noonan syndrome 7 germline Detail
Pathogenic 2016-04-21 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2016-04-21 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
not provided no assertion provided Noonan syndrome 1 germline Detail
Pathogenic 2014-10-02 no assertion criteria provided lung carcinoma somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Neoplasm somatic Detail
Pathogenic 2020-10-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-07-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2024-03-14 criteria provided, multiple submitters, no conflicts Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2022-08-03 criteria provided, single submitter RASopathy germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Trametinib C Predictive Supports Sensitivity/Response Somatic 3 22805292 Detail
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
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Case report of a phase 1 study in advanced melanoma patients. 97 patients with melanoma were enrolle... CIViC Evidence Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Noonan syndrome 7 ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Noonan syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND RASopathy ClinVar Detail
NA 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
rs121913369 dbSNP
Genome
hg19
Position
chr7:140,453,146-140,453,146
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
L597V
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/585
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