ClinGen Classification:
Classification
Uncertain Significance
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960933C>G , CM000672.2:g.87960933C>G | GRCh38 |
| NC_000010.10:g.89720690C>G , CM000672.1:g.89720690C>G | GRCh37 |
| NC_000010.9:g.89710670C>G | NCBI36 |
| NG_007466.2:g.102495C>G , LRG_311:g.102495C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.934C>G | ENSP00000514759.2:p.Pro312Ala | |
| ENST00000710265.1:c.841C>G | ENSP00000518161.1:p.Pro281Ala | |
| ENST00000472832.3:c.841C>G | ENSP00000483066.2:p.Pro281Ala | |
| ENST00000688158.2:n.1576C>G | ||
| ENST00000688922.2:c.*671C>G | ENSP00000508742.2:n.*671C>G | |
| ENST00000700021.1:c.796C>G | ENSP00000514757.1:p.Pro266Ala | |
| ENST00000700022.1:c.*180C>G | ENSP00000514758.1:n.*180C>G | |
| ENST00000700023.1:n.1999C>G | ||
| ENST00000700024.1:n.2233C>G | ||
| ENST00000700025.1:n.1610C>G | ||
| ENST00000700026.1:n.478C>G | ||
| ENST00000700029.1:c.768C>G | ||
| ENST00000706954.1:c.841C>G | ENSP00000516674.1:p.Pro281Ala | |
| ENST00000706955.1:c.*876C>G | ENSP00000516675.1:n.*876C>G | |
| ENST00000686459.1:c.*427C>G | ENSP00000508909.1:n.*427C>G | |
| ENST00000688158.1:c.*952C>G | ENSP00000509254.1:n.*952C>G | |
| ENST00000688308.1:c.841C>G | ENSP00000508752.1:p.Pro281Ala | |
| ENST00000688922.1:c.762C>G | ||
| ENST00000693560.1:c.1360C>G | ENSP00000509861.1:p.Pro454Ala | |
| ENST00000371953.8:c.841C>G MANE Select | ENSP00000361021.3:p.Pro281Ala | |
| ENST00000371953.7:c.841C>G | ENSP00000361021.3:p.Pro281Ala | |
| ENST00000472832.2:c.268C>G | ENSP00000483066.1:p.Pro90Ala | |
| NM_000314.5:c.841C>G | NP_000305.3:p.Pro281Ala | |
| NM_000314.6:c.841C>G | NP_000305.3:p.Pro281Ala | |
| NM_001304717.2:c.1360C>G | NP_001291646.2:p.Pro454Ala | |
| NM_001304718.1:c.250C>G | NP_001291647.1:p.Pro84Ala | |
| XM_006717926.2:c.796C>G | XP_006717989.1:p.Pro266Ala | |
| XM_011539981.1:c.841C>G | XP_011538283.1:p.Pro281Ala | |
| XM_011539982.1:c.745C>G | XP_011538284.1:p.Pro249Ala | |
| XR_945791.1:n.1411C>G | ||
| NM_000314.7:c.841C>G | NP_000305.3:p.Pro281Ala | |
| NM_001304717.5:c.1360C>G | NP_001291646.4:p.Pro454Ala | |
| NM_001304718.2:c.250C>G | NP_001291647.1:p.Pro84Ala | |
| NM_000314.8:c.841C>G MANE Select | NP_000305.3:p.Pro281Ala |