rs121909221(A;T)
From SNPedia
| Bannayan-Riley-Ruvalcaba syndrome |
| Is a | genotype |
| of | rs121909221 |
| Gene | PTEN |
| Chromosome | 10 |
| Position | 87,952,135 |
| mentioned | by |
| Magnitude | 6.3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6.3 | Bannayan-Riley-Ruvalcaba syndrome |
| (T;T) | 0 | common in clinvar |
Considered pathogenic in ClinVar. This is a genotype with recommended actions if clinically confirmed. In brief:
- Have annual comprehensive physical exams, especially for skin, mucous membranes, thyroids and breasts, plus urinalysis.
- Women should have annual mammograms and breast MRI screening starting at age 30 and self-exam starting at age 18; also, consider endometrial biopsies and/or ultrasound from age 30.
- Thyroid ultrasound, colonoscopy and renal ultrasound exams are recommended starting at ages 18, 35 and 40, respectively.
- Genetic counseling and/or testing is recommended for at-risk relatives.
The full ClinGen Actionability report about PTEN Hamartoma Tumor Syndrome - Cowden Syndrome can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
