Table 2 Odds ratios (OR) and 95% confidence intervals (CI) for pathogenicity of missense variants in BRCA1 and BRCA2.

From: Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

Gene

Region

Codons

OR (95% CI)a

Bayesian analysis

BRCA1

Ring ___domain

9–98

8.4 (6.4–11.2)

Supports pathogenic

Exon 11

224–1366

<0.01 (0.0–0.01)

Strong benign (coldspot)

Coiled-coil ___domain

1393–1424

0.6 (0.04–9.7)

Moderate benign

BRCT repeats

1649–1859

2.7 (0.9–8.6)

Supports pathogenic

BRCA2

exon 10 and 11

266–2281

<0.01 (0.0–0.01)

Strong benign (coldspot)

DNA-binding ___domain

2481–3186

1.0 (0.06–15.6)

Not informative

  1. aOdds ratios are calculated as (P + LP + 1/2)/(B + LB + 1/2). For example, an odds ratio of 1.0 indicates the same number of P + LP and B + LB variants in a given region. Based on Bayesian analysis (Tavtigian et al.18), odds ratios <0.48 were considered "supporting benign," <0.23 "moderate benign,” and <0.05 "strong benign.”
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