Gene | Exon | Variant nomenclature (as appeared in reference report) | Variant nomenclature acc. to HGVS designationb | Variant type | Variant class | Frequency in the 2 largest published Jordanian cohorts, compared to total numbers (N) of identified BRCA2 variants in each report | Ethnicities/Nationalities where variants have been previously reported | ||
---|---|---|---|---|---|---|---|---|---|
A cohort of 616 young patients [26] from KHCC (N = 55) | A cohort of 500 HR patients [28] from KHCC (N = 48) | A cohort of 192 HR patients from MoH [23] (N = 8) | |||||||
BRCA2 | 11 | 2482del4 [27], c.2254_2257del (p.Asp752Phefs) [23, 25, 26, 28] | c.2254_2257del p.(Asp752Phefsa19) | fs | P* | 11 | 8 | 2 | |
BRCA2 | 11 | c.2254_2257del (p.Asp752Phefs) | c.2254_2257del p.(Asp752Phefsa19) and c.5351dup p.(Asn1784Lysfsa3) NM_000059.4:c. 2254_2257del(;) 5351dup | fs | P* | 5 | 6 | 0 | |
BRCA2 | 5–11 | Exon 5–11 duplication [25, 26, 28], dup exons 5–11(5’)[27] | Exon 5–11 duplication; c.(425 + 1_426-1)_(6841 + 1_6842-1)dup p? | large dup | P | 8 | 5 | 0 | |
BRCA2 | 11 | c.6685G > T (p.Glu2229Ter) [25, 26, 28] 6913G > T/E2229X [27] | c.6685G > T p.(Glu2229a) | ns | P* | 3 | 3 | 0 | |
BRCA2 | 10 | 1461insA [27] | c.1233dup p.(Pro412Thrfsa9) | fs | P* | 5 | 3 | 0 | |
BRCA2 | Intron 24 | c.9257-1G > A [25, 26, 28] IVS24-1 G > A [27] | c.9257-1G > A p.? | sp | P* | 2 | 2 | 0 | |
BRCA2 | 11 | c.6486_6489del p.(Lys2162Asnfsa5) | fs | P* | 2 | 2 | 0 | ||
BRCA2 | 11 | c.4222_4223del p.(Gln1408Argfsa5) | fs | LP | 2 | 0 | 0 | ||
BRCA2 | 11 | c.6627_6634del p.(Ile2209Metfsa13) | fs | P* | 2 | 0 | 0 | Jordanian [43, 44], Palestinians, [45] and non-Jewish Israeli [46] | |
BRCA2 | 22 | c.8878C > T p.(Gln2960a) | ns | P* | 2 | 0 | 0 | Multiple Ethnicities [35] |