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LYFE SCIENCES
Project: HERA
NM_001126049.2:c.-694T>G
p.?  ·  KLLN
ACMG/AMP
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Legacy Engine
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Classification rationale
1

The KLLN c.-694T>G (NP_001119521.1:p.?) variant has not been reported in ClinVar.

clinvar ↗
2

This variant is absent from gnomAD v2.1 and is present at very low frequency in gnomAD v4.1 (2/185458 alleles; AF 0.00108%; highest observed population AF 0.00787% in Finnish), supporting rarity and meeting PM2 at supporting strength while remaining far below benign frequency thresholds.

gnomad_v2 ↗ gnomad_v4 ↗
3

SpliceAI predicts no significant splice impact for this variant (max delta score 0.08), but no validated computational evidence was identified to determine whether this upstream change has a damaging or benign regulatory effect.

spliceai ↗
Applied criteria
Met
Not met
Not assessed
N/A
Very strong
Strong
Moderate
Supporting
Pathogenic evidence
PVS
PVS1
PS
PS1
PS2
PS3
PS4
PM
PM1
PM2
PM3
PM4
PM5
PM6
PP
PP1
PP2
PP3
PP4
PP5
Benign evidence
BA
BA1
BS
BS1
BS2
BS3
BS4
BP
BP1
BP2
BP3
BP4
BP5
BP6
BP7
PVS1
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Rationale
Select a criterion to inspect its explanation.
Evidence used
  • —
Gaps remaining
  • —
Rule
—
Publications
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Research and evidence
gnomAD v2.1 evidence
v2.1
gnomAD v4.1 evidence
v4.1
01
Population
gnomAD v2.1Absent from gnomAD v2.1.
gnomAD v4.1This variant is present in gnomAD v4.1 (AF= 1.07841e-05; MAF= 0.00108%, 2/185458 alleles, homozygotes = 0) and has highest observed frequency in the European (Finnish) population (AF= 7.87154e-05; MAF= 0.00787%, 2/25408 alleles, homozygotes = 0).
gnomAD v2 ↗ gnomAD v4 ↗
ClinVar evidence
02
ClinVar
This variant is absent from ClinVar.
ClinVar ↗
03
Functional
No functional summary recorded.
OncoKB ↗
In silico evidence
04
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.08).
SpliceAI ↗
COSMIC evidence
05
COSMIC
This variant has not previously been reported in somatic cancers (COSMIC).
COSMIC ↗
06
Cancer hotspots
No cancer hotspot summary recorded.