ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
COSMIC:
MaveDb:
Score
-2.399434227
Revel Score:
ENST00000371953 (MANE Select)
0.858
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957940T>C , CM000672.2:g.87957940T>C | GRCh38 |
| NC_000010.10:g.89717697T>C , CM000672.1:g.89717697T>C | GRCh37 |
| NC_000010.9:g.89707677T>C | NCBI36 |
| NG_007466.2:g.99502T>C , LRG_311:g.99502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.722T>C | ENSP00000514759.2:p.Phe241Ser | |
| ENST00000710265.1:c.722T>C | ENSP00000518161.1:p.Phe241Ser | |
| ENST00000472832.3:c.722T>C | ENSP00000483066.2:p.Phe241Ser | |
| ENST00000688158.2:n.1457T>C | ||
| ENST00000688922.2:c.*552T>C | ENSP00000508742.2:n.*552T>C | |
| ENST00000700021.1:c.677T>C | ENSP00000514757.1:p.Phe226Ser | |
| ENST00000700022.1:c.*61T>C | ENSP00000514758.1:n.*61T>C | |
| ENST00000700023.1:n.1880T>C | ||
| ENST00000700024.1:n.2114T>C | ||
| ENST00000700025.1:n.1491T>C | ||
| ENST00000700026.1:n.359T>C | ||
| ENST00000700029.1:c.556T>C | ||
| ENST00000706954.1:c.722T>C | ENSP00000516674.1:p.Phe241Ser | |
| ENST00000706955.1:c.*757T>C | ENSP00000516675.1:n.*757T>C | |
| ENST00000686459.1:c.*308T>C | ENSP00000508909.1:n.*308T>C | |
| ENST00000688158.1:c.*833T>C | ENSP00000509254.1:n.*833T>C | |
| ENST00000688308.1:c.722T>C | ENSP00000508752.1:p.Phe241Ser | |
| ENST00000688922.1:c.643T>C | ||
| ENST00000693560.1:c.1241T>C | ENSP00000509861.1:p.Phe414Ser | |
| ENST00000371953.8:c.722T>C MANE Select | ENSP00000361021.3:p.Phe241Ser | |
| ENST00000371953.7:c.722T>C | ENSP00000361021.3:p.Phe241Ser | |
| ENST00000472832.2:c.149T>C | ENSP00000483066.1:p.Phe50Ser | |
| NM_000314.5:c.722T>C | NP_000305.3:p.Phe241Ser | |
| NM_000314.6:c.722T>C | NP_000305.3:p.Phe241Ser | |
| NM_001304717.2:c.1241T>C | NP_001291646.2:p.Phe414Ser | |
| NM_001304718.1:c.131T>C | NP_001291647.1:p.Phe44Ser | |
| XM_006717926.2:c.677T>C | XP_006717989.1:p.Phe226Ser | |
| XM_011539981.1:c.722T>C | XP_011538283.1:p.Phe241Ser | |
| XM_011539982.1:c.626T>C | XP_011538284.1:p.Phe209Ser | |
| XR_945791.1:n.1292T>C | ||
| NM_000314.7:c.722T>C | NP_000305.3:p.Phe241Ser | |
| NM_001304717.5:c.1241T>C | NP_001291646.4:p.Phe414Ser | |
| NM_001304718.2:c.131T>C | NP_001291647.1:p.Phe44Ser | |
| NM_000314.8:c.722T>C MANE Select | NP_000305.3:p.Phe241Ser |