rs387906848
A SNP in the BAP1 gene on chromosome 3. Its most notable genotype is A;G: BAP1 Tumor Predisposition Syndrome
- Gene
- BAP1
- Location
- Chr 352,402,608 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs387906848 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BAP1 SNPs
- rs375129361C;TBAP1 Tumor Predisposition SyndromeVery important
- rs397509413-;CBAP1 Tumor Predisposition SyndromeVery important
- rs397509414-;CBAP1 Tumor Predisposition SyndromeVery important
- rs774730309A;GBAP1 Tumor Predisposition SyndromeVery important
- rs864622592A;GBAP1 Tumor Predisposition SyndromeVery important
- rs869025212-;GBAP1 Tumor Predisposition SyndromeVery important
- rs869312757A;GBAP1 Tumor Predisposition SyndromeVery important
Notes
From SNPedia
Notes
aka c.2050C>T, p.Gln684Ter, and Q684X rs387906848(T) is likely to be the most frequent BAP1 gene mutation associated with BAP1 tumor predisposition syndrome , a dominantly inherited condition that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, including the following: * Skin cancers: cutaneous melanoma and basal cell carcinoma * A type of eye cancer called uveal melanoma * Malignant mesothelioma, which is cancer of the mesothelium, most often occuring in the membrane that lines the abdomen and covers the abdominal organs * A form of kidney cancer called clear cell renal cell carcinoma
Source and license
Adapted from rs387906848 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.