Skip to main content

Table 2 BRCA1 variants detected in Malaysian carriers by genotyping

From: Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study

HGVS cDNA HGVS protein Reported in BICa AGVGDb PolyPhen-2c SIFTd MAFe (%) VFf in controls (%) Breast cancer cases Healthy controls ORg 95% CI p-value
c.571G > A p.Val191Ile 10 C0 Benign Damaging 0.30 0.75 5/1218 11/1464 0.53 0.18–1.54 0.242
c.823G > A p.Gly275Ser 4 C0 Probably damaging Damaging 0.08 0.14 4/2089 2/1464 1.49 0.27–8.25 0.650
c.1036C > T p.Pro346Ser 4 C0 Benign Tolerated 0.13 0.14 5/1219 2/1464 3.30 0.64–17.09 0.155
c.2286A > T p.Arg762Ser 3 C0 Benign Damaging 0.13 0.07 6/1218 1/1463 7.44 0.89–62.32 0.064
c.2726A > T p.Asn909Ile 2 C0 Possibly damaging Damaging 0.13 0.27 5/2091 4/1462 0.90 0.24–3.37 0.874
c.3625 T > G p.Leu1209Val 1 C0 Possibly damaging Damaging 0.04 0.14 1/2058 2/1461 0.18 0.02–2.05 0.168
c.3662A > C p.Glu1221Ala 3 C0 Probably damaging Damaging 0.07 0.21 1/1215 3/1454 0.44 0.05–4.19 0.471
  1. a Breast Cancer Information Core (http://research.nhgri.nih.gov/bic/), an open access online breast cancer mutation database assessed by Oct 2015
  2. b AGVGD grades: C0, C15, C25, C35, C45, C55, C65 with C65 most likely to interfere with function and C0 least likely. The probability was assessed using the alignment of which from human to sea urchin in BRCA1
  3. c PolyPhen-2 grades: Benign, Possibly damaging, Probably damaging
  4. d SIFT grades: Tolerated, Damaging
  5. e Minor allele frequency, which was detected in the entire cohort
  6. f Variant frequency, which was detected only in healthy controls
  7. g Odds ratio, adjusted for ethnicity, age and family history using logistic regression