Table 5 Unclassified sequence variants in BRCA2 gene in Slovenian population.
From: The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population
BIC nomenclature* | HGVS nomenclature** | Protein change | Allele | No. of alleles/all alleles of tested probands (allele frequencies) | No. of alleles/all alleles of tested healthy individuals (allele frequencies) | Described in BIC database | Clinical importance entered in BIC database |
|---|---|---|---|---|---|---|---|
Missense changes | |||||||
2032G > A | c.1804G > A | G602R | A | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |
3747C > T | c.3519C > T | S1152L | T | 1/208 (0.005) | 0/80 (0.000) | no | |
5078G > A | c.4850G > A | S1617N | A | 1/208 (0.005) | 0/80 (0.000) | no | |
5972C > T | c.5744C > T | T1915M | T | 14/208 (0,067) | 3/80 (0.038) | yes | unknown |
8107A > T | c.7879A > T | I2627F | T | 1/380 (0.003) | 0/80 (0.000) | yes | unknown |
8482A > T | c.8254A > T | I2752F | T | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |
8579G > A | c.8351G > A | R2784Q | A | 2/380 (0.005) | 0/80 (0.000) | yes | unknown |
9133G > A | c.8905G > A | V2969M | A | 2/380 (0.005) | 0/80 (0.000) | yes | unknown |
9599A > T | c.9371A > T | N3124I | AT | 1/380 (0.003) | 0/80 (0.000) | yes | unknown |
10462A > G | 10234A > G | I3412V | G | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |
Frameshift changes | |||||||
4091delTAA | c.3863delTAA | del288N | del | 2/208 (0.010) | 0/80 (0.000) | no | |
9512dupl12 | c.9284_9295dup12 | dup | 1/380 (0.003) | 0/80 (0.000) | no | ||
Intron changes | |||||||
IVS2-7A > T | c.68-7A > T | intron | T | 1/208 (0.005) | 1/80 (0.013) | yes | unknown |
Synonymous changes | |||||||
1395G > A | c.1167G > A | P389P | A | 1/208 (0.005) | 0/80 (0.000) | no | |
1977G > A | c.1749G > A | L583L | A | 1/208 (0.005) | 0/80 (0.000) | no | |
4296G > A | c.4068G > A | L1356L | A | 3/208 (0.014) | 0/80 (0.000) | yes | unknown |
5013G > A | c.4785G > A | Q1595Q | A | 1/208 (0.005) | 0/80 (0.000) | no | |
5985G > A | c.5757G > A | L1919L | G | 0/208 (0.000) | 1/80 (0.013) | no | |
10338G > A | 10110G > A | R3370R | A | 2/380 (0.005) | 0/80 (0.000) | yes | unknown |
10431G > A | 10203G > A | T3401T | A | 1/208 (0.005) | 0/80 (0.000) | no | |