rs28937590

A SNP in the BCS1L gene on chromosome 2. Its most notable genotype is G;G: GRACILE syndrome

Gene
BCS1L
Location
Chr 2218,661,219 (GRCh38)
Highest magnitude
8.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
0%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GBadcarrier for a GRACILE syndrome mutationImportant · 3.0
  3. G;GMost notableBadGRACILE syndromeVery important · 8.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs28937590, also known as Ser78Gly or S78G, is a SNP in the BC1 (ubiquinol-cytochrome c reductase) synthesis-like BCS1L gene. The rare rs28937590(G) allele which is (when present in two copies) causative for GRACILE syndrome is thought to be a founder mutation found primarily in those of Finnish ancestry. 23andMe reports on this SNP under the term i5012660.

A;G

Unaffected in absence of a second BCS1L gene mutation

Source and license

Adapted from rs28937590 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.