Variant ID: 1-45798063-C-T

NM_012222.2(MUTYH):c.779G>A;(p.Trp260*)

This variant was identified in 2 publications




Publications:


Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
KG Chaffee, AL Oberg, RR McWilliams, N Majithia, BA Allen, J Kidd, N Singh, AR Hartman, RJ Wenstrup, GM Petersen
Publication Date: 2018-01

Variant appearance in text: MYH: 779G>A
PubMed Link: 28726808
Variant Present in the following documents:
  • NIHMS885107-supplement-Supplementary___Appendix__online_only_material__etc__.docx
View BVdb publication page



Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American Journal Of Human Genetics
JJ Johnston, WS Rubinstein, FM Facio, D Ng, LN Singh, JK Teer, JC Mullikin, LG Biesecker
Publication Date: 2012-07-13

Variant appearance in text: MUTYH: 779G>A; Arg260Gln
PubMed Link: 22703879
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.707G>A p.Trp236* stop_gained,splice_region_variant 9/16 -
ENST00000355498.2 c.704G>A p.Trp235* stop_gained,splice_region_variant 9/16 -
ENST00000372098.3 c.779G>A p.Trp260* stop_gained,splice_region_variant 9/16 -
ENST00000372100.5 c.737G>A p.Trp246* stop_gained,splice_region_variant 9/16 -
ENST00000372104.1 c.704G>A p.Trp235* stop_gained,splice_region_variant 10/17 -
ENST00000372110.3 c.749G>A p.Trp250* stop_gained,splice_region_variant 9/16 -
ENST00000372115.3 c.746G>A p.Trp249* stop_gained,splice_region_variant 9/16 -
ENST00000412971.1 c.320G>A p.Trp107* stop_gained,splice_region_variant 4/7 -
ENST00000435155.1 c.737G>A p.Trp246* stop_gained,splice_region_variant 9/10 -
ENST00000448481.1 c.737G>A p.Trp246* stop_gained,splice_region_variant 9/16 -
ENST00000450313.1 c.788G>A p.Trp263* stop_gained,splice_region_variant 9/16 -
ENST00000456914.2 c.704G>A p.Trp235* stop_gained,splice_region_variant 9/16 -
ENST00000461495.1 c.*443G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 8/10 -
ENST00000462388.1 n.395G>A - splice_region_variant,non_coding_transcript_exon_variant 3/5 -
ENST00000467459.1 c.98G>A p.Trp33* stop_gained,splice_region_variant,NMD_transcript_variant 1/8 -
ENST00000467940.1 c.*627G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 9/10 -
ENST00000470256.1 c.*33G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 7/9 -
ENST00000475516.1 c.*517G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 9/16 -
ENST00000478796.1 n.691G>A - splice_region_variant,non_coding_transcript_exon_variant 4/5 -
ENST00000481571.1 c.*517G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 9/16 -
ENST00000488731.2 c.187+372G>A - intron_variant - 3/6
ENST00000528013.2 c.746G>A p.Trp249* stop_gained,splice_region_variant 9/16 -
ENST00000528332.2 c.229+372G>A - intron_variant - 3/6
ENST00000529984.1 c.187+372G>A - intron_variant - 3/6
ENST00000531105.1 c.115+2000G>A - intron_variant - 2/2
ENST00000533178.1 c.*33G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 3/10 -
NM_001048171.1 c.746G>A p.Trp249* stop_gained,splice_region_variant 9/16 -
NM_001048172.1 c.707G>A p.Trp236* stop_gained,splice_region_variant 9/16 -
NM_001048173.1 c.704G>A p.Trp235* stop_gained,splice_region_variant 9/16 -
NM_001048174.1 c.704G>A p.Trp235* stop_gained,splice_region_variant 9/16 -
NM_001128425.1 c.788G>A p.Trp263* stop_gained,splice_region_variant 9/16 -
NM_001293190.1 c.749G>A p.Trp250* stop_gained,splice_region_variant 9/16 -
NM_001293191.1 c.737G>A p.Trp246* stop_gained,splice_region_variant 9/16 -
NM_001293192.1 c.428G>A p.Trp143* stop_gained,splice_region_variant 9/16 -
NM_001293195.1 c.704G>A p.Trp235* stop_gained,splice_region_variant 10/17 -
NM_001293196.1 c.428G>A p.Trp143* stop_gained,splice_region_variant 9/16 -
NM_001350650.1 c.359G>A p.Trp120* stop_gained,splice_region_variant 8/15 -
NM_001350651.1 c.359G>A p.Trp120* stop_gained,splice_region_variant 8/15 -
NM_012222.2 c.779G>A p.Trp260* stop_gained,splice_region_variant 9/16 -
NR_146882.1 n.962G>A - splice_region_variant,non_coding_transcript_exon_variant 9/17 -
NR_146883.1 n.776G>A - splice_region_variant,non_coding_transcript_exon_variant 8/16 -