Genomic variant #0000414243

Individual ID 00187028
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.6022536A>C
DNA change (hg38) g.5982905A>C
Published as -
ISCN -
DB-ID PMS2_000369 See all 2 reported entries
Variant remarks NGS: in FFPE Tumor and normal tissue: PMS2 p.Val698Gly in Normal tissue (50:50) AND in Tumor (contaminated with with tissue) ca. 61% mutierted Allele, -> LOH of WT-Alle?!

p.Val698Gly in highly kons ÔÇ£MutL dimerisationÔÇØ Domain.
Variant in adjacent Aminoacid (p.Asp699His) is pathogenic, in homoz. State for CMMR-D described (13 y old Patient, Glioblastoma, Burkitt-Lymphom, Cafe au lait, CRC, parents heterozygote carriers, 3 heterozygous siblings, Walter ; Pediatr Blood Cancer 2013; 60:E135-136)
Reference -
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 Elke Holinski-Feder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 12 c.2093T>G r.(?) p.(Val698Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000187997 DNA ? - - PMS2 1 Elke Holinski-Feder