Variant #0000414266 (NC_000007.13:g.6048640G>C, PMS2(NM_000535.6):c.11C>G)

Individual ID 00188620
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048640G>C
DNA change (hg38) g.6009009G>C
Published as -
ISCN -
DB-ID PMS2_000018 See all 3 reported entries
Variant remarks Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2)
Reference PubMed: Haraldsdottir 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.04
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Sigurdis Haraldsdottir
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 ?/. 1 c.11C>G r.(?) p.(Ala4Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189589 DNA ? - WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >10X; all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed; screen date 2015-01-01 - 1 Sigurdis Haraldsdottir