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LYFE SCIENCES
Project: HERA
NM_007294.4:c.80+5G>C
p.?  ·  BRCA1
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Classification rationale
1

The BRCA1 c.80+5G>C (NP_009225.1:p.?) variant has not been observed in somatic cancers in COSMIC and has been reported in ClinVar as a variant of uncertain significance without expert panel review.

clinvar ↗
2

This variant is absent from gnomAD v2.1, gnomAD v4.1, and gnomAD-Canada, which supports rarity in population databases.

gnomad_v2 ↗ gnomad_v4 ↗ gnomad_canada ↗
3

SpliceAI predicts no significant splice impact with a maximum delta score of 0.00, which is below the BRCA1 PP3 threshold of 0.2 and within the BP4 no-splice-impact threshold of 0.1 for intronic variants outside the native donor ±1,2 positions.

spliceai ↗ cspec ↗
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
—
Research and evidence
ClinVar evidence
02
ClinVar
This variant has been reported in ClinVar as Uncertain significance (2 clinical laboratories). (ClinVarID = 433683)
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 = 0.00).
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.