rs139428292

A SNP in the LOC105371260 gene on chromosome 1. Its most notable genotype is A;A: Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely

Gene
LOC105371260
Location
Chr 1145,927,447 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadReported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikelyVery important · 5.0
  2. A;GBadCarrier of a mutation for thrombocytopenia-absent radius syndromeImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Show notes, about 160 words

rs139428292, also known as c.-21G>A, represents a relatively rare mutation in the RBM8A gene on chromosome 1. The minor allele is reported in ClinVar (as well as BabySeq) as a recessively inherited pathogenic mutation leading to thrombocytopenia-absent radius syndrome (TAR). Based on OMIM, most cases of TAR are caused by carrying a rare null (large deletion allele) on one chromosome 1 and either rs201779890(C) or rs139428292(A) on the other.

A;A

See rs139428292; the frequency with which Promethease users are reported to be (A;A) seems both high and yet roughly in accordance with population predictions, but since TAR syndrome is quite rare, this genotype seems to either be unrelated or at least to have very low penetrance. If you have this genotype, and have any symptoms associated with thrombocytopenia-absent radius syndrome, please email us (info@snpedia.com).

A;G

Unaffected in absence of another pathogenic mutation in the RBM8A gene; see rs139428292

Source and license

Adapted from rs139428292 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.