Table 3.
Germline nucleotide variants in HBOCS patients from Volga District, Republic of Tatarstan and in healthy subjects from Non-Finish European population (NFE).
| Gene | Hg19 coordinate | Transcript:cDNA | Protein | N | Frequency in HBOCS patients from Tatarstan, % | Frequency in NFE |
|---|---|---|---|---|---|---|
| BRCA1 | chr17:41209079 | NM_007300.3:c.5329dup (also known as 5382insC) | p.Gln1777Profs*74 | 9 | 4.5 | 1.6*10−4 |
| BRCA1 | chr17:41215382 | NM_007300.3:c.5224C>T | p.Gln1742* | 4 | 2.0 | 8.9*10−6 |
| BRCA1 | chr17:41258504 | NM_007300.3:c.181T>G (also known as T300G) | p.Cys61Gly | 2 | 1.0 | 6.3*10−5 |
| BRCA1 | chr17:41209095 | NM_007300.3:c.5314C>T | p.Arg1772* | 2 | 1.0 | 7.9*10−6 |
| BRCA2 | chr13:32906576 | NM_000059.3:c.965_966dup | p.Val323Lysfs*2 | 2 | 1.0 | N/A |
| CDH1 | chr16:68844220 | NM_004360.4:c.808T>G | p.Ser270Ala | 2 | 1.0 | 4.7*10−4 |
| CHEK2 | chr22:29130389 | NM_001005735.1:c.319+2T>A | - (splice site) | 2 | 1.0 | 1.1*10−4 |
| MUTYH | chr1:45797228 | NM_001128425.1:c.1187G>A | p.Gly396Asp | 2 | 1.0 | 4.8*10−3 |
| BRCA1 | chr17:41246513 | NM_007300.3:c.1034_1035insC | p.Pro346Serfs*4 | 1 | 0.5 | 0.0 |
| BRCA1 | chr17:41245587 | NM_007300.3:c.1961del (also known as 2080delA) | p.Lys654Serfs*47 | 1 | 0.5 | 6.7*10−5 |
| BRCA1 | chr17:41243924 | NM_007300.3:c.3624del | p.Lys1208Asnfs*2 | 1 | 0.5 | N/A |
| BRCA1 | chr17:41245587 | NM_007300.3:c.1961del (founder mutation 2080delA) | p.Lys654Serfs*47 | 1 | 0.5 | 6.7*10−5 |
| BRCA1 | chr17:41244614 | NM_007300.3:c.2934del | p.Arg979Valfs*21 | 1 | 0.5 | N/A |
| BRCA1 | chr17:41244282 | NM_007300.3:c.3266del | p.Leu1089Cysfs*20 | 1 | 0.5 | N/A |
| BRCA1 | chr17:41215890 | NM_007300.3:c.5215+1G>T | - (splice site) | 1 | 0.5 | N/A |
| BRCA1 | chr17:41244761 | NM_007300.3:c.2787del | p.Pro930Leufs*70 | 1 | 0.5 | N/A |
| BRCA1 | chr17:41246083 | NM_007300.3:c.1465G>T | p.Glu489* | 1 | 0.5 | N/A |
| BRCA1 | chr17:41245918 | NM_007300.3:c.1630del | p.Gln544Lysfs*2 | 1 | 0.5 | N/A |
| BRCA1 | chr17:41246633 | NM_007294.3:c.915T>A | p.Cys305* | 1 | 0.5 | 1.8*10−5 |
| BRCA2 | chr13:32900279 | NM_000059.3:c.468dup | p.Lys157* | 1 | 0.5 | 6.7*10−5 |
| BRCA2 | chr13:32906625 | NM_000059.3:c.1010_1011insTG | p.Asp339Leufs*11 | 1 | 0.5 | N/A |
| BRCA2 | chr13:32907409 | NM_000059.3:c.1796_1800del | p.Ser599* | 1 | 0.5 | 9.2*10−6 |
| BRCA2 | chr13:32968950 | NM_000059.3:c.9381G>A | p.Trp3127* | 1 | 0.5 | N/A |
| BRCA2 | chr13:32968836 | NM_000059.3:c.9269del | p.Phe3090Serfs*14 | 1 | 0.5 | 4.8*10−5 |
| BRCA2 | chr13:32906843 | NM_000059.3:c.1231del | p.Ile411Tyrfs*19 | 1 | 0.5 | N/A |
| BRCA2 | chr13:32915113 | NM_000059.3:c.6622_6623del | p.Asn2208Tyrfs*16 | 1 | 0.5 | 0.0 |
| BRCA2 | chr13:32915062 | NM_000059.3:c.6574del | p.Met2192Trpfs*14 | 1 | 0.5 | N/A |
| BRCA2 | chr13:32914265 | NM_000059.3:c.5773del | p.Gln1925Argfs*38 | 1 | 0.5 | 9.0*10−6 |
| CHEK2 | chr22:29091857 | NM_001005735.1:c.1229del | p.Thr410Metfs*15 | 1 | 0.5 | 2.5*10−6 |
| CHEK2 | chr22:29099504 | NM_001005735.1:c.1022_1026del | p.Tyr341Cysfs*12 | 1 | 0.5 | N/A |
| CHEK2 | chr22:29090060 | NM_001005735.1:c.1550G>A | p.Arg517His | 1 | 0.5 | 1.1*10−4 |
| FANCI | chr15:89838324 | NM_001113378.1:c.2635C>T | p.Arg879* | 1 | 0.5 | 1.7*10−5 |
| MSH2 | chr2:47630353 | NM_000251.2:c.23C>T | p.Thr8Met | 1 | 0.5 | 1.6*10−4 |
| MUTYH | chr1:45800146 | NM_001128425.1:c.74G>A | p.Gly25Asp | 1 | 0.5 | N/A |
| MUTYH | chr1:45800167 | NM_001128425.1:c.53C>T | p.Pro18Leu | 1 | 0.5 | 3.1*10−5 |
| MUTYH | chr1:45798269 | NM_001128425.1:c.667A>G | p.Ile223Val | 1 | 0.5 | 3.4*10−4 |
| RAD51C | chr17:56801399 | NM_058216.2:c.905-2_905-1del | - (splice site) | 1 | 0.5 | 0.0 |
*
N/A, not available.