rs142951029

A SNP in the CALR3 gene on chromosome 19. Its most notable genotype is C;T: likely to be benign

Gene
CALR3
Location
Chr 1916,490,519 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;TMost notableGoodlikely to be benignMinor · 1.0
  2. T;TGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

rs142951029, also known as c.245A>G, p.Lys82Arg and K82R, is a variant in the CALR3 gene on chromosome 19. This is a very rare variant, seen only 69 times out of 121142 alleles in ExAC, with 0 homozygotes observed and a MAF of 0.000568. A (single) report published in 2007 concluded that the very rare rs142951029(C) variant led to Familial hypertrophic cardiomyopathy, type 19. Subsequent analyses have cast doubt on this conclusion, with a 2013 review concluding this variant is likely to be benign. If you are aware of new evidence for or against the pathogenicity of this variant, please contact us.

C;T

See discussion at rs142951029; if you have evidence supporting pathogenicity for this genotype, please contact us.

Source and license

Adapted from rs142951029 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.