Classification rationale
In progress — classification not generated yet.
No rationale recorded.
Final classification
In progress — classification not generated yet.
PTEN
c.1012_1016del
p.Ser338LysfsTer3
· exon NC_000010.10
Gene context
In progress — evidence not uploaded yet.
This variant
In progress — evidence not uploaded yet.
In progress — classification not generated yet.
LYFE Sciences is an AI system, and it can make mistakes. Criteria
may be applied incorrectly, sources may be misread, and a confident-looking
classification can still be wrong. Double-check every criterion and
its underlying evidence before relying on any call.
Gene diagram
· NM_000314.8 · variants mapped to exon structure
PTEN
NM_000314.8
Fetching transcript structure from UCSC…
Applied criteria · 0 applied · 28 assessed
MetEvidence satisfies this criterion.
Not metEvaluated against available evidence; threshold not reached.
Not assessedApplies in principle, but no evidence was found to evaluate it.
N/ADoesn't apply to this variant type.
Applied · 0
No criteria were applied for this variant.
Assessed · not applied
· 0 not met · 28 not assessed
Pathogenic
PVS1
PS1
PS2
PS3
PS4
PM1
PM2
PM3
PM4
PM5
PM6
PP1
PP2
PP3
PP4
PP5
Benign
BA1
BS1
BS2
BS3
BS4
BP1
BP2
BP3
BP4
BP5
BP6
BP7
Research & evidence
Population frequency
gnomAD v4.1
gnomAD v2.1
v4.1
Absent from gnomAD v4.1.
v2.1
Absent from gnomAD v2.1.
🇨🇦 CA
Absent from gnomAD-Canada v1.0.
Allele frequency by ancestry
three datasets · side by side
gnomAD v4.1
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
gnomAD v2.1
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
gnomAD Canada 🇨🇦
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
COSMIC
Cancer hotspots
Somatic evidence
Not in COSMIC / hotspots
COSMIC
In progress — evidence not uploaded yet.
Hotspots
This variant does not lie in a statistically significant hotspot.
Sources & reference links