Variant #0000394543 (NC_000007.13:g.6048649A>T, PMS2(NM_000535.5):c.2T>A)

Individual ID 00173822
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048649A>T
DNA change (hg38) g.6009018A>T
Published as -
ISCN -
DB-ID PMS2_000017 See all 5 reported entries
Variant remarks ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842)
Reference -
ClinVar ID -
dbSNP ID rs587780059
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/+? 1 c.2T>A r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174712 DNA SEQ-NG-I - - MLH1, PMS2 1 Andreas Laner