ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957914del , CM000672.2:g.87957914del | GRCh38 |
| NC_000010.10:g.89717671del , CM000672.1:g.89717671del | GRCh37 |
| NC_000010.9:g.89707651del | NCBI36 |
| NG_007466.2:g.99476del , LRG_311:g.99476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.696del | ENSP00000514759.2:p.Arg233AspfsTer23 | |
| ENST00000710265.1:c.696del | ENSP00000518161.1:p.Arg233AspfsTer23 | |
| ENST00000472832.3:c.696del | ENSP00000483066.2:p.Arg233AspfsTer23 | |
| ENST00000688158.2:n.1431del | ||
| ENST00000688922.2:c.*526del | ENSP00000508742.2:n.*526del | |
| ENST00000700021.1:c.651del | ENSP00000514757.1:p.Arg218AspfsTer23 | |
| ENST00000700022.1:c.*35del | ENSP00000514758.1:n.*35del | |
| ENST00000700023.1:n.1854del | ||
| ENST00000700024.1:n.2088del | ||
| ENST00000700025.1:n.1465del | ||
| ENST00000700026.1:n.333del | ||
| ENST00000700029.1:c.530del | ||
| ENST00000706954.1:c.696del | ENSP00000516674.1:p.Arg233AspfsTer23 | |
| ENST00000706955.1:c.*731del | ENSP00000516675.1:n.*731del | |
| ENST00000686459.1:c.*282del | ENSP00000508909.1:n.*282del | |
| ENST00000688158.1:c.*807del | ENSP00000509254.1:n.*807del | |
| ENST00000688308.1:c.696del | ENSP00000508752.1:p.Arg233AspfsTer23 | |
| ENST00000688922.1:c.617del | ||
| ENST00000693560.1:c.1215del | ENSP00000509861.1:p.Arg406AspfsTer23 | |
| ENST00000371953.8:c.696del MANE Select | ENSP00000361021.3:p.Arg233AspfsTer23 | |
| ENST00000371953.7:c.696del | ENSP00000361021.3:p.Arg233AspfsTer23 | |
| ENST00000472832.2:c.123del | ENSP00000483066.1:p.Arg42AspfsTer23 | |
| NM_000314.5:c.696del | NP_000305.3:p.Arg233AspfsTer23 | |
| NM_000314.6:c.696del | NP_000305.3:p.Arg233AspfsTer23 | |
| NM_001304717.2:c.1215del | NP_001291646.2:p.Arg406AspfsTer23 | |
| NM_001304718.1:c.105del | NP_001291647.1:p.Arg36AspfsTer23 | |
| XM_006717926.2:c.651del | XP_006717989.1:p.Arg218AspfsTer23 | |
| XM_011539981.1:c.696del | XP_011538283.1:p.Arg233AspfsTer23 | |
| XM_011539982.1:c.600del | XP_011538284.1:p.Arg201AspfsTer23 | |
| XR_945791.1:n.1266del | ||
| NM_000314.7:c.696del | NP_000305.3:p.Arg233AspfsTer23 | |
| NM_001304717.5:c.1215del | NP_001291646.4:p.Arg406AspfsTer23 | |
| NM_001304718.2:c.105del | NP_001291647.1:p.Arg36AspfsTer23 | |
| NM_000314.8:c.696del MANE Select | NP_000305.3:p.Arg233AspfsTer23 |