Back
LYFE SCIENCES
Project: HERA
NM_015559.2:c.1313C>A
p.Ala438Asp  ·  SETBP1
ACMG/AMP
Starting
Initialising…
0%
Legacy Engine
Ready
View Legacy →
Classification rationale
1

The SETBP1 c.1313C>A (p.Ala438Asp) variant has not been reported in ClinVar, and no variant-specific reviewed functional evidence was identified in OncoKB.

clinvar ↗ oncokb ↗
2

This variant is absent from gnomAD v2.1 and gnomAD v4.1, so the observed population frequency is 0 and is below the 0.1% threshold used for PM2 support.

gnomad_v2 ↗ gnomad_v4 ↗
3

Computational evidence does not support a damaging effect: REVEL is 0.054, BayesDel is -0.44775, and SpliceAI predicts no significant splice impact with a maximum delta score of 0.00, supporting BP4 rather than PP3.

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
—
—
Rationale
Select a criterion to inspect its explanation.
Evidence used
  • —
Gaps remaining
  • —
Rule
—
Publications
—
Research and evidence
ClinVar evidence
02
ClinVar
This variant is absent from ClinVar.
ClinVar ↗
Functional evidence
03
Functional
OncoKB: Unknown Oncogenic Effect
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. SETBP1, an epigenetic remodeling protein, is frequently altered by mutation in a range of hematopoietic malignancies.
OncoKB ↗
In silico evidence
04
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.054. BayesDel score = -0.44775.
SpliceAI ↗
COSMIC evidence
05
COSMIC
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
COSMIC ↗
Cancer hotspots evidence
06
Cancer hotspots Not found
This variant does not lie in a statistically significant hotspot.
ResidueA438
Hotspots ↗