Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Met (p.V640M) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Met (p.V640M) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) AND Non-small cell lung carcinoma
ClinVar Allele ID
53982
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1918G>A
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1918G>A
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1807G>A
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1732G>A
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1642G>A
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1642G>A
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1696G>A
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1798G>A
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1534G>A
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1798G>A
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1687G>A
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1798G>A
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1798G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2012-05-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000037934
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs