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Aspartate aminotransferase levels

BRCA1 · rs8176279

What the study found

Who was studied 389,565 European ancestry individuals; replicated in 134,182 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 7.08 z-score higher; p = 1 × 10−12.

How common The C allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 17, band 17q21.31 — in an intron of BRCA1.

What ClinVar records

Classification Benign for Breast-ovarian cancer, familial, susceptibility to, 1; reviewed by expert panel (3 of 4 stars, 1 submitter), last evaluated 2015-01-12. ClinVar record 209296 NM_007294.4(BRCA1):c.5194-1244T>G

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version the research linked to Aspartate aminotransferase levels. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Aspartate aminotransferase levels. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Aspartate aminotransferase levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs8176279

What is rs8176279?

rs8176279 is a single position in the genome, in or near the BRCA1 gene. Published research associates it with aspartate aminotransferase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs8176279 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs8176279 come from?

GWAS Catalog, Nature communications 2021, PMID:33547301. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Aspartate aminotransferase levels (rs8176279). MyGeneLog™. https://www.mygenelog.com/variants/rs8176279

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