rs777460677
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is -;ACAGCC: Carrier of a polycystic kidney disease mutation; inheritance unclear
- Gene
- PKD1
- Location
- Chr 162,093,916 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Not ratedMost likely normal, however, it is ambiguous due to database naming problem
- -;ACAGCCMost notableBadCarrier of a polycystic kidney disease mutation; inheritance unclear
- ACAGCC;ACAGCCGoodcommon/normal
On SNPedia: (-;-), (-;ACAGCC), (ACAGCC;ACAGCC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PKD1 SNPs
- rs1616940A;GPolycystic Kidney Disease (predicted)Very important
- rs2432403A;GPolycystic Kidney Disease (predicted)Very important
- rs148812376A;AAutosomal dominant polycystic kidney disease (predicted)Very important
- rs151257298A;GPolycystic Kidney Disease (predicted)Very important
- rs199476094A;GPolycystic Kidney Disease (predicted)Very important
- rs199476095A;GPolycystic Kidney Disease (predicted)Very important
- rs199476098G;TPolycystic Kidney Disease (predicted)Very important
- rs199476099A;CPolycystic Kidney Disease (predicted)Very important
Notes
From SNPedia
Show notes, about 200 words
c.10710_10715delGGCTGT (p.Ala3571_Val3572del), but also, c.10710_10715dup (p.Val3572_Ser3573insAlaVal) Because rs777460677 currently represents both the variant consisting of an insertion, and the variant consisting of a deletion, automated software that assigns genotypes may report the normal genotype as either (D;D) or (I;I). Both are correct in this case, even though those genotypes also reflect the homozygous-mutation genotype. This confusion also propagates to other databases using the dbsSNP ID rs777460677 to discuss pathogenicity with respect to polycystic kidney disease. In ClinGen, there are two (different) allelic names for the variants combined as rs777460677: * CA7829452, representing c.10710_10715dupGGCTGT (p.Val3572_Ser3573insAlaVal): considered of uncertain significance in ClinVar wrt adult type PKD * CA645373030, representing c.10710_10715delGGCTGT (p.Ala3571_Val3572del): considered pathogenic for autosomal recessive polycystic kidney disease
-;-
See discuss on main rs-page. This genotype could represent carrying two copies of a PKD mutation, but more likely, it just represents the normal genotype at this position in the PKD1 gene.
-;ACAGCC
Could be dominant or recessive; see discussion via main rs-page
Source and license
Adapted from rs777460677 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.