Variant #0000005951 (NC_000022.11:g.28695219G>A, NM_007194.3:c.1283C>T (CHEK2))
| Individual ID |
00000865 |
| Chromosome |
22 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Probably affects function |
| DNA change (genomic) (Relative to hg38 / GRCh38) |
g.28695219G>A |
| Reference |
- |
| DB-ID |
CHEK2_000020 See all 4 reported entries |
| dbSNP ID |
- |
| Variant remarks |
The c.1283C>T (p.Ser428Phe) variant is well described in the literature, and is thought to be a founder variant in the Ashkenazi Jewish population (Shaag et al. 2005). This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50. |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Lina Nuñez-Private Practice |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Instituto Nacional del Cancer |
| Date created |
2019-05-31 18:53:34 -03:00 (-03) |
| Date last edited |
2023-04-27 12:44:34 -03:00 (-03) |
Variant on transcripts
Screenings
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