Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly506Ala (p.G506A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Ala (p.G506A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
lung adenocarcinoma
Source Database
ClinVar
Description
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) AND Lung adenocarcinoma
ClinVar Allele ID
363174
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1517G>C
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1397G>C
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1397G>C
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1397G>C
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1241G>C
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1241G>C
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1397G>C
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1286G>C
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1133G>C
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1331G>C
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1295G>C
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1517G>C
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1406G>C
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000418222
ClinVar Disease
Lung adenocarcinoma
Observed Origin Sample
somatic
Drugs