Nomenclature for the description of mutations and other sequence variations


Contributor(s)

Written 2008-10 Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Indicate the reference sequence:


DNA
 
 
 
coding DNA
c.
 
genomic DNA
g.
 
mitochondrial DNA
m.
RNA
 
r.
Protein
 
p.

Code:


substitution (for bases)
>
range
-
more change in one allele
;
more transcripts / mosaicism
,
uncertain
()
allele
[ ]
deletion
del
duplication
dup
insertion
ins
inversion
inv
conversion
con
extension
ext
stop codon
X
frame shift
fsX
opposite strand
o
translocation
t

Type of variation/mutation:


Substitution  
c.123A>G on cDNA, A in 123 is replaced by G
p.P252R on protein, proline (P) replaced by arginine (R)
   
Deletion  
c.546delT deletion of T in 546
c.586_591del for six bases deleted
p.F508del deletion of phenylalanine (F) in 508
   
Duplication  
c.546dupT duplication of T in 546
c.586_591dup duplication of the segment 586 to 591
p.G4_Q6dup duplication of the segment from glycine (G) in 4 to glutamine (Q) in 6
   
Insertion  
c.546_547insT insertion of T between 546 and 547
c.1086_1087insGCGTGA insertion of GCGTGA
p.K2_L3insQS insertion of glutamine serine between lysine (K) in 2 and leucine (L) in 3
   
Inversion  
c.546_2031inv segment 546 to 2031 inverted
   
Frameshift  
p.R83SfsX15 arginine (R) is the first amino acid changed, it is in position 83, it makes serine (S) instead, the length of the shift frame is 15, including the stop codon (X)

Citation

Huret JL

Atlas of Genetics and Cytogenetics in Oncology and Haematology 2008-10-01

Nomenclature for the description of mutations and other sequence variations

Online version: http://atlasgeneticsoncology.org/teaching/30067/js/lib/gene-fusions-explorer/favicon/favicon-16x16.png