LYFE Sciences · Project HERA
Variant Interpretation · Classification Report
Variant classification summary
ABCA4
· NP_000341.2:p.(Gly1961Glu)
· NM_000350.3
GRCh37: chr1:94473807 C>T
·
GRCh38: chr1:94008251 C>T
Gene:
ABCA4
Transcript:
NM_000350.3
Final call
Variant details
Gene
ABCA4
Transcript
NM_000350.3
Protein
NP_000341.2:p.(Gly1961Glu)
gnomAD AF
ClinVar
In progress — classification not generated yet.
OncoKB
In progress — classification not generated yet.
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 |
|
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| PS1 | Not assessed |
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| PS2 | Not assessed |
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|
| PS3 | Not assessed |
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|
| 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.