ClinGen Classification:
Classification
Uncertain Significance
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
COSMIC:
dbSNP:
Revel Score:
ENST00000371953 (MANE Select)
0.697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957919G>A , CM000672.2:g.87957919G>A | GRCh38 |
| NC_000010.10:g.89717676G>A , CM000672.1:g.89717676G>A | GRCh37 |
| NC_000010.9:g.89707656G>A | NCBI36 |
| NG_007466.2:g.99481G>A , LRG_311:g.99481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.701G>A | ENSP00000514759.2:p.Arg234Gln | |
| ENST00000710265.1:c.701G>A | ENSP00000518161.1:p.Arg234Gln | |
| ENST00000472832.3:c.701G>A | ENSP00000483066.2:p.Arg234Gln | |
| ENST00000688158.2:n.1436G>A | ||
| ENST00000688922.2:c.*531G>A | ENSP00000508742.2:n.*531G>A | |
| ENST00000700021.1:c.656G>A | ENSP00000514757.1:p.Arg219Gln | |
| ENST00000700022.1:c.*40G>A | ENSP00000514758.1:n.*40G>A | |
| ENST00000700023.1:n.1859G>A | ||
| ENST00000700024.1:n.2093G>A | ||
| ENST00000700025.1:n.1470G>A | ||
| ENST00000700026.1:n.338G>A | ||
| ENST00000700029.1:c.535G>A | ||
| ENST00000706954.1:c.701G>A | ENSP00000516674.1:p.Arg234Gln | |
| ENST00000706955.1:c.*736G>A | ENSP00000516675.1:n.*736G>A | |
| ENST00000686459.1:c.*287G>A | ENSP00000508909.1:n.*287G>A | |
| ENST00000688158.1:c.*812G>A | ENSP00000509254.1:n.*812G>A | |
| ENST00000688308.1:c.701G>A | ENSP00000508752.1:p.Arg234Gln | |
| ENST00000688922.1:c.622G>A | ||
| ENST00000693560.1:c.1220G>A | ENSP00000509861.1:p.Arg407Gln | |
| ENST00000371953.8:c.701G>A MANE Select | ENSP00000361021.3:p.Arg234Gln | |
| ENST00000371953.7:c.701G>A | ENSP00000361021.3:p.Arg234Gln | |
| ENST00000472832.2:c.128G>A | ENSP00000483066.1:p.Arg43Gln | |
| NM_000314.5:c.701G>A | NP_000305.3:p.Arg234Gln | |
| NM_000314.6:c.701G>A | NP_000305.3:p.Arg234Gln | |
| NM_001304717.2:c.1220G>A | NP_001291646.2:p.Arg407Gln | |
| NM_001304718.1:c.110G>A | NP_001291647.1:p.Arg37Gln | |
| XM_006717926.2:c.656G>A | XP_006717989.1:p.Arg219Gln | |
| XM_011539981.1:c.701G>A | XP_011538283.1:p.Arg234Gln | |
| XM_011539982.1:c.605G>A | XP_011538284.1:p.Arg202Gln | |
| XR_945791.1:n.1271G>A | ||
| NM_000314.7:c.701G>A | NP_000305.3:p.Arg234Gln | |
| NM_001304717.5:c.1220G>A | NP_001291646.4:p.Arg407Gln | |
| NM_001304718.2:c.110G>A | NP_001291647.1:p.Arg37Gln | |
| NM_000314.8:c.701G>A MANE Select | NP_000305.3:p.Arg234Gln |