ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961056A>T , CM000672.2:g.87961056A>T | GRCh38 |
| NC_000010.10:g.89720813A>T , CM000672.1:g.89720813A>T | GRCh37 |
| NC_000010.9:g.89710793A>T | NCBI36 |
| NG_007466.2:g.102618A>T , LRG_311:g.102618A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1057A>T | ENSP00000514759.2:p.Lys353Ter | |
| ENST00000710265.1:c.964A>T | ENSP00000518161.1:p.Lys322Ter | |
| ENST00000472832.3:c.964A>T | ENSP00000483066.2:p.Lys322Ter | |
| ENST00000688158.2:n.1699A>T | ||
| ENST00000688922.2:c.*794A>T | ENSP00000508742.2:n.*794A>T | |
| ENST00000700021.1:c.919A>T | ENSP00000514757.1:p.Lys307Ter | |
| ENST00000700022.1:c.*303A>T | ENSP00000514758.1:n.*303A>T | |
| ENST00000700023.1:n.2122A>T | ||
| ENST00000700024.1:n.2356A>T | ||
| ENST00000700025.1:n.1733A>T | ||
| ENST00000700026.1:n.601A>T | ||
| ENST00000706954.1:c.964A>T | ENSP00000516674.1:p.Lys322Ter | |
| ENST00000706955.1:c.*999A>T | ENSP00000516675.1:n.*999A>T | |
| ENST00000686459.1:c.*550A>T | ENSP00000508909.1:n.*550A>T | |
| ENST00000688158.1:c.*1075A>T | ENSP00000509254.1:n.*1075A>T | |
| ENST00000688308.1:c.964A>T | ENSP00000508752.1:p.Lys322Ter | |
| ENST00000688922.1:c.885A>T | ||
| ENST00000693560.1:c.1483A>T | ENSP00000509861.1:p.Lys495Ter | |
| ENST00000371953.8:c.964A>T MANE Select | ENSP00000361021.3:p.Lys322Ter | |
| ENST00000371953.7:c.964A>T | ENSP00000361021.3:p.Lys322Ter | |
| ENST00000472832.2:c.391A>T | ENSP00000483066.1:p.Lys131Ter | |
| NM_000314.5:c.964A>T | NP_000305.3:p.Lys322Ter | |
| NM_000314.6:c.964A>T | NP_000305.3:p.Lys322Ter | |
| NM_001304717.2:c.1483A>T | NP_001291646.2:p.Lys495Ter | |
| NM_001304718.1:c.373A>T | NP_001291647.1:p.Lys125Ter | |
| XM_006717926.2:c.919A>T | XP_006717989.1:p.Lys307Ter | |
| XM_011539981.1:c.964A>T | XP_011538283.1:p.Lys322Ter | |
| XM_011539982.1:c.868A>T | XP_011538284.1:p.Lys290Ter | |
| XR_945791.1:n.1534A>T | ||
| NM_000314.7:c.964A>T | NP_000305.3:p.Lys322Ter | |
| NM_001304717.5:c.1483A>T | NP_001291646.4:p.Lys495Ter | |
| NM_001304718.2:c.373A>T | NP_001291647.1:p.Lys125Ter | |
| NM_000314.8:c.964A>T MANE Select | NP_000305.3:p.Lys322Ter |