Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly506Arg (p.G506R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Arg (p.G506R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) AND Non-small cell lung carcinoma
ClinVar Allele ID
53968
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1516G>A
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1396G>A
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1396G>A
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1285G>A
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1396G>A
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1240G>A
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1132G>A
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1330G>A
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1396G>A
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1294G>A
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1516G>A
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1405G>A
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1240G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2010-08-20
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000037915
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs