ClinGen Evidence Repository:
Classification
Likely Benign
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
Revel Score:
ENST00000371953 (MANE Select)
0.229
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013377 (AFR)
Genomes Max Group AF
0.00007965 (AFR)
Exomes Max Group AF
0.00013988 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960984C>G , CM000672.2:g.87960984C>G | GRCh38 |
| NC_000010.10:g.89720741C>G , CM000672.1:g.89720741C>G | GRCh37 |
| NC_000010.9:g.89710721C>G | NCBI36 |
| NG_007466.2:g.102546C>G , LRG_311:g.102546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.985C>G | ENSP00000514759.2:p.Gln329Glu | |
| ENST00000710265.1:c.892C>G | ENSP00000518161.1:p.Gln298Glu | |
| ENST00000472832.3:c.892C>G | ENSP00000483066.2:p.Gln298Glu | |
| ENST00000688158.2:n.1627C>G | ||
| ENST00000688922.2:c.*722C>G | ENSP00000508742.2:n.*722C>G | |
| ENST00000700021.1:c.847C>G | ENSP00000514757.1:p.Gln283Glu | |
| ENST00000700022.1:c.*231C>G | ENSP00000514758.1:n.*231C>G | |
| ENST00000700023.1:n.2050C>G | ||
| ENST00000700024.1:n.2284C>G | ||
| ENST00000700025.1:n.1661C>G | ||
| ENST00000700026.1:n.529C>G | ||
| ENST00000706954.1:c.892C>G | ENSP00000516674.1:p.Gln298Glu | |
| ENST00000706955.1:c.*927C>G | ENSP00000516675.1:n.*927C>G | |
| ENST00000686459.1:c.*478C>G | ENSP00000508909.1:n.*478C>G | |
| ENST00000688158.1:c.*1003C>G | ENSP00000509254.1:n.*1003C>G | |
| ENST00000688308.1:c.892C>G | ENSP00000508752.1:p.Gln298Glu | |
| ENST00000688922.1:c.813C>G | ||
| ENST00000693560.1:c.1411C>G | ENSP00000509861.1:p.Gln471Glu | |
| ENST00000371953.8:c.892C>G MANE Select | ENSP00000361021.3:p.Gln298Glu | |
| ENST00000371953.7:c.892C>G | ENSP00000361021.3:p.Gln298Glu | |
| ENST00000472832.2:c.319C>G | ENSP00000483066.1:p.Gln107Glu | |
| NM_000314.5:c.892C>G | NP_000305.3:p.Gln298Glu | |
| NM_000314.6:c.892C>G | NP_000305.3:p.Gln298Glu | |
| NM_001304717.2:c.1411C>G | NP_001291646.2:p.Gln471Glu | |
| NM_001304718.1:c.301C>G | NP_001291647.1:p.Gln101Glu | |
| XM_006717926.2:c.847C>G | XP_006717989.1:p.Gln283Glu | |
| XM_011539981.1:c.892C>G | XP_011538283.1:p.Gln298Glu | |
| XM_011539982.1:c.796C>G | XP_011538284.1:p.Gln266Glu | |
| XR_945791.1:n.1462C>G | ||
| NM_000314.7:c.892C>G | NP_000305.3:p.Gln298Glu | |
| NM_001304717.5:c.1411C>G | NP_001291646.4:p.Gln471Glu | |
| NM_001304718.2:c.301C>G | NP_001291647.1:p.Gln101Glu | |
| NM_000314.8:c.892C>G MANE Select | NP_000305.3:p.Gln298Glu |