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LYFE SCIENCES
Project: HERA
NM_000465.4:c.2127A>G
p.Pro709=  ·  BARD1
ACMG/AMP
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Initialising…
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Legacy Engine
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Classification rationale
1

The BARD1 c.2127A>G (p.Pro709=) variant has not been observed in somatic cancers in COSMIC and has been reported in ClinVar with Likely benign and Benign submissions.

clinvar ↗
2

This variant is absent from gnomAD v2.1 and gnomAD v4.1, with an observed allele frequency of 0, which is below the benign frequency thresholds and does not by itself support pathogenicity for a synonymous variant.

gnomad_v2 ↗ gnomad_v4 ↗
3

In silico analysis predicts no meaningful splice effect, with a SpliceAI maximum delta score of 0.00, and the variant is synonymous at p.Pro709=, supporting BP7 and not supporting 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
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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
ClinVar evidence
02
ClinVar
This variant has been reported in ClinVar as Likely benign (2 clinical laboratories) and as Benign (1 clinical laboratory).
ClinVar ↗
Functional evidence
03
Functional
OncoKB: Unknown Oncogenic Effect
OncoKB oncogenicity for this specific variant: Unknown Oncogenic Effect (variant has not been individually curated).
OncoKB ↗
In silico evidence
04
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).
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).
Cancer hotspots evidence
06
Cancer hotspots Not found
This variant does not lie in a statistically significant hotspot.
ResidueP709
Hotspots ↗