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LYFE SCIENCES
Project: HERA
NM_000051.4:c.8315del
p.Gly2772GlufsTer34  ·  ATM
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Classification rationale
1

The ATM c.8315del (p.Gly2772GlufsTer34) variant has been reported in ClinVar with pathogenic and likely pathogenic clinical submissions.

clinvar ↗
2

This variant is absent from gnomAD v4.1 and gnomAD v2.1, supporting rarity in the general population.

gnomad_v4 ↗ gnomad_v2 ↗
3

ATM-specific criteria support pathogenic evidence for this truncating variant because p.(Gly2772GlufsTer34) introduces a premature termination codon upstream of the p.Arg3047 threshold used for ATM truncating variants, and ATM loss of function is an established disease mechanism.

cspec ↗
4

SpliceAI predicts no significant splice impact for this variant, with a maximum delta score of 0.14.

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
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Gaps remaining
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Rule
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Publications
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Research and evidence
ClinVar evidence
02
ClinVar
This variant has been reported in ClinVar as Pathogenic (2 clinical laboratories) and as Likely pathogenic (1 clinical laboratory).
ClinVar ↗
Functional evidence
03
Functional
OncoKB: Likely Oncogenic
OncoKB classifies this variant as Likely Oncogenic; biological effect: Likely Loss-of-function.
OncoKB ↗
In silico evidence
04
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.14).
SpliceAI ↗
COSMIC evidence
05
COSMIC
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV53726306, n = 1 times).
COSMIC ↗
Cancer hotspots evidence
06
Cancer hotspots Not found
This variant does not lie in a statistically significant hotspot.
ResidueG2772
Hotspots ↗