Variant #0000595691 (NC_000007.13:g.(?_5996249)_(6027252_6029430)del, PMS2(NM_000535.6):c.(1144+1_1145-1)_*160{0})

Individual ID 00263993
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_5996249)_(6027252_6029430)del
DNA change (hg38) g.(?_5956618)_(5987621_5989799)del
Published as del ex11-15
ISCN -
DB-ID PMS2_000512
Variant remarks deletion PMS2 NG_008466.1(NM_000535.5):c.(1144+1_1145-1)_(*16781_?)del
Reference PubMed: Arnold 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +?/. 10i_15_ c.(1144+1_1145-1)_*160{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265107 DNA MLPA;SEQ-NG-I germline - MLH1, PMS2 1 Andreas Laner