Variant #0000416986 (NC_000002.11:g.48023197A>G, MSH6(NM_000179.2):c.622A>G)

Individual ID 00188615
Chromosome 2
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.48023197A>G
DNA change (hg38) g.47796058A>G
Published as -
ISCN -
DB-ID MSH6_000080 See all 2 reported entries
Variant remarks Carrier frequency in Iceland (%): 0.5; Odds ratio for CRC (95%CI): 1.39 (0.87-2.23)
Reference PubMed: Haraldsdottir 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.5
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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     
MSH6 NM_000179.2 ?/. 3 c.622A>G r.(?) p.(Met208Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189584 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