BRCA1
BRCA1 DNA Repair Associated
Gene Number: 672
Location: 17q21.31
Key Functions: DNA repair, tumor suppression, maintenance of genome stability
BRCA1 helps repair damaged DNA and maintain the stability of our genetic material. Certain harmful variants can disrupt this protection and substantially increase breast and ovarian cancer risk [R].
This report examines rs1799950, also called Q356R, a BRCA1 variant classified as benign. Explore your genotype below, visit our BRCA2 report for another gene involved in DNA repair.
This report covers one selected variant. It does not screen the entire BRCA1 gene or rule out hereditary cancer risk.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs1799950 | Analyze your DNA to see your genotype | C | Analyze your DNA to see a personalized result. |
rs1799950 — BRCA1 Q356R
TT – Reference genotype. No copies of the Q356R variant. (R).
TC – One copy of Q356R. This variant is classified as benign. (R).
CC – Two copies of Q356R. The benign classification also applies here; this is not a high-risk BRCA1 finding (R).
Functional effect: Q356R changes the amino acid glutamine to arginine at position 356 of the BRCA1 protein. The ENIGMA expert panel classifies this change as benign for hereditary breast and ovarian cancer [R].
If breast or ovarian cancer runs in your family, a healthcare professional or genetic counselor can help determine whether comprehensive genetic testing is appropriate.
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