Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Ser891Ala (p.S891A) ( ENST00000355710.8, ENST00000340058.6, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser891Ala (p.S891A) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
Medullary thyroid carcinoma
Source Database
ClinVar
Description
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) AND Medullary thyroid carcinoma
ClinVar Allele ID
28990
ClinVar RefSeq Alternation Syntax
NM_020629.2:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406760.1:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406786.1:c.1645T>G
ClinVar RefSeq Alternation Syntax
NM_001406769.1:c.2275T>G
ClinVar RefSeq Alternation Syntax
NM_001406783.1:c.1645T>G
ClinVar RefSeq Alternation Syntax
NM_001406787.1:c.1639T>G
ClinVar RefSeq Alternation Syntax
NM_001406773.1:c.2233T>G
ClinVar RefSeq Alternation Syntax
NM_001406777.1:c.1945T>G
ClinVar RefSeq Alternation Syntax
NM_001406778.1:c.1945T>G
ClinVar RefSeq Alternation Syntax
NM_001406768.1:c.2407T>G
ClinVar RefSeq Alternation Syntax
NM_001406791.1:c.1366T>G
ClinVar RefSeq Alternation Syntax
NM_020975.6:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406770.1:c.2383T>G
ClinVar RefSeq Alternation Syntax
NM_001406782.1:c.1774T>G
ClinVar RefSeq Alternation Syntax
NM_000323.2:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406774.1:c.2146T>G
ClinVar RefSeq Alternation Syntax
NM_001406743.1:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406744.1:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406763.1:c.2536T>G
ClinVar RefSeq Alternation Syntax
NM_001406790.1:c.1486T>G
ClinVar RefSeq Alternation Syntax
NM_001406792.1:c.1222T>G
ClinVar RefSeq Alternation Syntax
NM_001355216.2:c.1909T>G
ClinVar RefSeq Alternation Syntax
NM_001406793.1:c.1222T>G
ClinVar RefSeq Alternation Syntax
NM_001406779.1:c.1774T>G
ClinVar RefSeq Alternation Syntax
NM_001406767.1:c.2383T>G
ClinVar RefSeq Alternation Syntax
NM_001406765.1:c.2536T>G
ClinVar RefSeq Alternation Syntax
NM_001406794.1:c.1222T>G
ClinVar RefSeq Alternation Syntax
NM_001406761.1:c.2542T>G
ClinVar RefSeq Alternation Syntax
NM_001406766.1:c.2383T>G
ClinVar RefSeq Alternation Syntax
NM_001406781.1:c.1774T>G
ClinVar RefSeq Alternation Syntax
NM_001406759.1:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406762.1:c.2542T>G
ClinVar RefSeq Alternation Syntax
NM_001406785.1:c.1654T>G
ClinVar RefSeq Alternation Syntax
NM_020630.7:c.2671T>G
ClinVar RefSeq Alternation Syntax
NM_001406772.1:c.2275T>G
ClinVar RefSeq Alternation Syntax
NM_001406788.1:c.1486T>G
ClinVar RefSeq Alternation Syntax
NM_001406780.1:c.1774T>G
ClinVar RefSeq Alternation Syntax
NM_001406789.1:c.1486T>G
ClinVar RefSeq Alternation Syntax
NM_001406784.1:c.1681T>G
ClinVar RefSeq Alternation Syntax
NM_001406764.1:c.2542T>G
ClinVar RefSeq Alternation Syntax
NM_001406771.1:c.2233T>G
ClinVar RefSeq Alternation Syntax
NM_001406776.1:c.1945T>G
ClinVar RefSeq Alternation Syntax
NM_001406775.1:c.1945T>G
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-13
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000445273
ClinVar Disease
Medullary thyroid carcinoma
Observed Origin Sample
somatic
Drugs