ClinGen Classification:
Classification
Likely Benign
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034121 (SAS)
Genomes Max Group AF
0.00017585 (SAS)
Exomes Max Group AF
0.00027261 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863735G>A , CM000672.2:g.87863735G>A | GRCh38 |
| NC_000010.10:g.89623492G>A , CM000672.1:g.89623492G>A | GRCh37 |
| NC_000010.9:g.89613472G>A | NCBI36 |
| NG_007466.2:g.5298G>A , LRG_311:g.5298G>A | |
| NG_033079.1:g.4703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-735G>A | ENSP00000514759.2:n.-735G>A | |
| ENST00000710265.1:c.-735G>A | ENSP00000518161.1:n.-735G>A | |
| ENST00000706953.1:c.27G>A | ENSP00000516673.1:p.Pro9= | |
| ENST00000706954.1:c.-16-719G>A | ENSP00000516674.1:n.-16-719G>A | |
| ENST00000706955.1:c.-735G>A | ENSP00000516675.1:n.-735G>A | |
| ENST00000688158.1:c.-735G>A | ENSP00000509254.1:n.-735G>A | |
| ENST00000688308.1:c.-17+622G>A | ENSP00000508752.1:n.-17+622G>A | |
| ENST00000693560.1:c.-215G>A | ENSP00000509861.1:n.-215G>A | |
| ENST00000371953.8:c.-735G>A MANE Select | ENSP00000361021.3:n.-735G>A | |
| ENST00000371953.7:c.-735G>A | ENSP00000361021.3:n.-735G>A | |
| ENST00000610634.1:c.-837G>A | ENSP00000477517.1:n.-837G>A | |
| NM_000314.5:c.-734G>A | NP_000305.3:n.-734G>A | |
| NM_000314.6:c.-734G>A | NP_000305.3:n.-734G>A | |
| NM_001304717.2:c.-215G>A | NP_001291646.2:n.-215G>A | |
| NM_001304718.1:c.-1439G>A | NP_001291647.1:n.-1439G>A | |
| NM_000314.7:c.-734G>A | NP_000305.3:n.-734G>A | |
| NM_001304717.5:c.-215G>A | NP_001291646.4:n.-215G>A | |
| NM_001304718.2:c.-1439G>A | NP_001291647.1:n.-1439G>A | |
| NM_000314.8:c.-735G>A MANE Select | NP_000305.3:n.-735G>A |