Genomic variant #0000414270

Individual ID 00188624
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6029571T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000021
Variant remarks Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 1.38 (0.24-7.97)
Reference PubMed: Haraldsdottir 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.03
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 ?/. 10 c.1004A>T VUS r.(?) p.(Asn335Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189593 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