rs397514705

A SNP in the SHANK3 gene on chromosome 22. Its most notable genotype is C;G: Possible: Phelan-McDermid syndrome (autism-like?)

Gene
SHANK3
Location
Chr 2250,678,666 (GRCh38)
Highest magnitude
5.1Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;GMost notableBadPossible: Phelan-McDermid syndrome (autism-like?)Very important · 5.1

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

Conditions, medicines and genes

Other SHANK3 SNPs

All SHANK3 SNPs

Notes

From SNPedia

Notes

rs397514705, also known as c.421C>G, p.Pro141Ala and P141A, represents a rare variant in the SHANK3 gene on chromosome 22. Some variants in the SHANK3 gene have been associated with autism. For rs397514705(G), a 2013 publication reports a 25-year-old African-American woman with developmental delay, seizures, mild facial dysmorphism, and an autism-like disorder consistent with Phelan-McDermid syndrome. See also OMIM 606230.0006

C;G

see discussion at rs397514705

Source and license

Adapted from rs397514705 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.