Variant #0000415038 (NC_000007.13:g.(?_6012870)_(6013174_6017218)del, PMS2(NM_000535.6):c.(2445+1_2446-1)_(*160_?)del)

Individual ID 00200817
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6012870)_(6013174_6017218)del
DNA change (hg38) -
Published as Dosage reduction ~0.75
ISCN -
DB-ID PMS2_000335 See all 2 reported entries
Variant remarks Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ian Berry
Database submission license No license selected
Created by Ian Berry
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +?/. 14i_15_ c.(2445+1_2446-1)_(*160_?)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201787 DNA MLPA - - PMS2 1 Ian Berry