Table 2. Variants in BRCA1 and BRCA2.
| Position | Exon | Variation type | Variant (HGVS) | Frequency | dbSNP144 | Zygocity | Total cases | Classification | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| cDNA | Protein | Affected | Unaffected | BIC | ClinVar | ||||||
| BRCA1 | |||||||||||
| Exonic | 11B | nonsynonymous | c.2077G>A | p.Asp693Asn | 0.0335 | rs4986850 | het | 1 | 1 | Pending | Benign |
| Exonic | 11B | synonymous | c.2082C>T | p.Ser694= | 0.3365 | rs1799949 | het | 7 | 5 | Class 1 | Benign |
| Exonic | 11B | synonymous | c.2311T>C | p.Leu771= | 0.3353 | rs16940 | het | 7 | 5 | Class 1 | Benign |
| Exonic | 11C | nonsynonymous | c.2612C>T | p.Pro871Leu | 0.5439 | rs799917 | het | 8 | 7 | Class 1 | Benign |
| Exonic | 11C | nonsynonymous | c.3113A>G | p.Glu1038Gly | 0.3357 | rs16941 | het | 7 | 5 | Pending | Benign |
| Exonic | 11D | nonsynonymous | c.3548A>G | p.Lys1183Arg | 0.3526 | rs16942 | het | 7 | 5 | Pending | Benign |
| Exonic | 13 | synonymous | c.4308T>C | p.Ser1436= | 0.3363 | rs1060915 | het | 7 | 5 | Class 1 | Benign |
| Exonic | 16 | nonsynonymous | c.4837A>G | p.Ser1613Gly | 0.3558 | rs1799966 | het | 7 | 5 | Pending | Benign |
| Intronic | 6 | - | c.213-161A>G | 0.5485 | rs799912 | het | 2 | 3 | Class 1 | Benign | |
| Intronic | 8 | - | c.442-34C>T | 0.0986 | rs799923 | het | 4 | 4 | Class 1 | Benign | |
| Intronic | 8 | - | c.547+146A>T | 0.3526 | rs8176140 | hom | 1 | 0 | Class 1 | Benign | |
| Intronic | 9 | - | c.548-58delT | 0.3349 | rs273902772 | het | 7 | 5 | Pending | Benign | |
| Intronic | 13 | - | c.4357+117G>A | 0.0643 | rs3737559 | het | 5 | 2 | Class 1 | Benign | |
| Intronic | 15 | - | c.4485-63A>G | 0.3534 | rs273900734 | het | 7 | 5 | Pending | Benign | |
| Intronic | 17 | - | c.5774+6C>G | . | rs80358032 | het | 1 | 0 | Pending | Benign / Uncertain | |
| Intronic | 17 | - | c.4987-68G>A | 0.3546 | rs8176234 | het | 7 | 5 | Pending | Benign | |
| Intronic | 17 | - | c.4987-92A>G | 0.3546 | rs8176233 | het | 7 | 5 | Pending | Benign | |
| Intronic | 18 | - | c.5152+66G>A | 0.3425 | rs3092994 | het | 7 | 5 | Class 1 | Benign | |
| BRCA2 | |||||||||||
| Exonic | 10 | nonsynonymous | c.865A>C | p.Asn289His | 0.0737 | rs766173 | het | 1 | 1 | Pending | Benign |
| Exonic | 10 | nonsynonymous | c.1114A>C | p.His372Asn | 0.2494 | rs144848 | het | 7 | 4 | Class 1 | Benign |
| Exonic | 10 | synonymous | c.1365A>G | p.Ser455= | 0.0737 | rs1801439 | het | 1 | 1 | Class 1 | Benign |
| Exonic | 11A | synonymous | c.2229T>C | p.His743= | 0.0735 | rs1801499 | het | 1 | 1 | Class 1 | Benign |
| Exonic | 11B | nonsynonymous | c.2971A>G | p.Asn991Asp | 0.0801 | rs1799944 | het | 1 | 1 | Class 1 | Benign |
| Exonic | 11B | synonymous | c.3396A>G | p.Lys1132= | 0.2668 | rs1801406 | het | 4 | 3 | Class 1 | Benign |
| Exonic | 11C | synonymous | c.3807T>C | p.Val1269= | 0.1681 | rs543304 | het | 1 | 2 | Class 1 | Benign |
| Exonic | 11D | synonymous | c.4563A>G | p.Leu1521= | 0.9740 | rs206075 | hom | 10 | 7 | Class 1 | Benign |
| Exonic | 11F | synonymous | c.6513C>G | p.Val2171= | 0.9736 | rs206076 | hom | 10 | 7 | Pending | Benign |
| Exonic | 14 | synonymous | c.7242A>G | p.Ser2414= | 0.2326 | rs1799955 | het | 4 | 3 | Class 1 | Benign |
| Exonic | 14 | nonsynonymous | c.7397C>T | p.Ala2466Val | 0.9758 | rs169547 | hom | 10 | 7 | Class 1 | Benign |
| Intronic | 2 | - | c.67+82C>G | 0.0010 | rs189026060 | het | 1 | 0 | Pending | Benign | |
| Intronic | 4 | - | c.425+67A>C | 0.0743 | rs11571610 | het | 1 | 1 | Class 1 | Benign | |
| Intronic | 5 | - | c.426-89T>C | 0.0743 | rs3783265 | het | 1 | 1 | Class 1 | Benign | |
| Intronic | 8 | - | c.681+56C>G | 0.1859 | rs2126042 | het | 2 | 0 | Pending | Benign | |
| Intronic | 14 | - | c.7435+53C>T | 0.0725 | rs11147489 | het | 1 | 1 | Pending | Benign | |
| Intronic | 17 | - | c.7806-14T>C | 0.5316 | rs9534262 | hom | 9 | 5 | Pending | Benign | |
| Intronic | 22 | - | c.8755-66T>C | 0.5116 | rs4942486 | hom | 7 | 3 | Class 1 | Benign | |
| UTR5 | 2 | - | c.-26G>A | 0.2093 | rs1799943 | het | 3 | 3 | Class 1 | Benign | |
| UTR3 | 27 | - | c.10362A>C | 0.1607 | rs15869 | het | 2 | 2 | Class 1 | Benign | |