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. 2022 Sep 5;14:969817. doi: 10.3389/fnagi.2022.969817

TABLE 3.

Rare variants in AD-risk gene TREM2 identified in this study.

ID patient FH score Nucleotide change Protein change Pathogenicity ClinVar/HGMD Clinical classification Frequency
GnomAD (EU)1 		P-value2
AD#085 0 c.140G > A p.Arg47His Likely benign/Alzheimer disease, increased risk Risk factor 315/127748 0.18
AD#026 3 c.287C > A p.Thr96Lys Benign/frontotemporal dementia, increased risk Risk factor 130/129182 0.08
c.632T > C p.Leu211Pro Benign/Alzheimer disease, increased risk Risk factor 144/129164 0.11
AD#045 0 c.407G > A p.Arg136Gln Uncertain significance/Alzheimer disease? Risk factor 17/128820 0.02
AD#089 3.5 c.668C > T p.Thr223Ile Benign/Alzheimer disease? Risk factor 49/129176 0.05

AD, Alzheimer disease, FH, family history. 1Population allele frequencies referred to the European (non-Finnish) population reported on GnomAD v2.1.1, expressed as Allele count (Alt/total). 2P-value Fisher’s exact test, BH correction.