Screening #0000189593

Individual ID 00188624
Template DNA
Technique ?
Tissue -
Remarks 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
Variants found? 1
Owner name Sigurdis Haraldsdottir


Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Unknown ?/. g.6029571T>A - - - PMS2_000021 Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 1.38 (0.24-7.97) PubMed: Haraldsdottir 2018 - - Germline - 0.03 - 0 - Sigurdis Haraldsdottir PMS2 - - - - - 10 NM_000535.5:c.1004A>T - VUS r.(?) p.(Asn335Ile) - - - - - - - - - - - - - - - - - - -
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