Genomic variant #0000414260

Individual ID 00188586
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6037019_6037024delinsCTTCACACACA
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000187 See all 51 reported entries
Variant remarks Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9)
Reference PubMed: Haraldsdottir 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sigurdis Haraldsdottir




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 7 c.736_741delinsTGTGTGTGAAG pathogenic r.(?) p.Pro246Cysfs*3



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189555 DNA SEQ - WGS; screen date 2015-01-01 - 1 Sigurdis Haraldsdottir