LYFE Sciences · Project HERA
Variant Interpretation · Classification Report
Variant classification summary
PTPN11
· NP_002825.3:p.(Ser502Leu)
· NM_002834.4
GRCh37: chr12:112926885 C>T
·
GRCh38: chr12:112489081 C>T
Gene:
PTPN11
Transcript:
NM_002834.4
Final call
Variant details
Gene
PTPN11
Transcript
NM_002834.4
Protein
NP_002825.3:p.(Ser502Leu)
gnomAD AF
0.0 (v4.1)
ClinVar
Pathogenic
OncoKB
Likely Oncogenic
Classification rationale
Interpretation summary
Generated evidence synthesis
Final determination:
Criteria assessment
ACMG/AMP criteria review
Criteria shown when status is available
All criteria require review: For research and educational purposes only.
| Criterion | Status | Rationale | Evidence used |
|---|---|---|---|
| PVS1 | Not assessed |
|
|
| PS1 | Not assessed |
|
|
| PS2 | Not assessed |
|
|
| PS3 | Not assessed |
|
|
| PS4 | Not assessed |
|
|
| PM1 | Not assessed |
|
|
| PM2 | Not assessed |
|
|
| PM3 | Not assessed |
|
|
| PM4 | Not assessed |
|
|
| PM5 | Not assessed |
|
|
| PM6 | Not assessed |
|
|
| PP1 | Not assessed |
|
|
| PP2 | Not assessed |
|
|
| PP3 | Not assessed |
|
|
| PP4 | Not assessed |
|
|
| PP5 | Not assessed |
|
|
| BA1 | Not assessed |
|
|
| BS1 | Not assessed |
|
|
| BS2 | Not assessed |
|
|
| BS3 | Not assessed |
|
|
| BS4 | Not assessed |
|
|
| BP1 | Not assessed |
|
|
| BP2 | Not assessed |
|
|
| BP3 | Not assessed |
|
|
| BP4 | Not assessed |
|
|
| BP5 | Not assessed |
|
|
| BP6 | Not assessed |
|
|
| BP7 | Not assessed |
|
Disclaimer:
The content and results provided by LYFE Sciences are for research and educational purposes only and must not be used as a substitute for professional medical judgment, diagnosis, or treatment. Always consult a qualified healthcare professional before making any clinical decisions.