Table 2 Pathogenic variants found in primary AD/FTD genes

From: Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations

Gene

Coding Change

AA Change

ExAC

CADD

REVEL

Family history

ACMG Classification

Country of origin

Proband’s Phenotype(s)

APP

c.2020 G > C

Glu674Gln

<0.00001

25.2

0.635

A-Dom

Likely pathogenic

Mexico

Amnestic AD

C9orf72

c.-45 + 163 GGGGCC [ > 24]

.

.

.

A-Dom

Pathogenic

Chile

bvFTD

Brazil

GRN

c.21 G > A

Trp7Ter

.

36

.

Sporadic

Pathogenic

Colombia

usAD

c.58dupT

Cys20Leufs*45

.

.

.

A-Dom

Pathogenic

Chile

bvFTD

c.328 C > T

Arg110Ter

<0.00001

29.4

.

Positive

Pathogenic

Colombia

FTD-PSP

c.462+1 G > A

.

.

26.3

.

Positive

Pathogenic

Peru

bvFTD

c.767_768insCC

Gln257Profs*27

.

.

.

Unknown

Pathogenic

Brazil

bvFTD

c.1098 T > A

Cys366Ter

.

36

.

Positive

Pathogenic

Colombia

svPPA

MAPT

c.796 C > G

Leu266Val

.

25.8

0.662

A-Dom

Pathogenic

Brazil

bvFTD

c.915 T > C

Ser305Ser

.

.

.

A-Dom

Pathogenic

Colombia

bvFTD

c.1280 C > T

Thr427Met

0.00001

33

0.508

Unknown

Pathogenic

Argentina

Amnestic AD

PSEN1

c.250 A > G

Met84Val

 

23.9

0.923

Unknown

VUS

Argentina

Amnestic AD

c.280 G > A

Val94Met

<0.00001

25.1

0.847

A-Dom

Pathogenic

Colombia

usAD

c.356 C > T

Thr119Ile

.

24.4

0.795

A-Dom

Pathogenic

Colombia

bvFTD

Argentina

c.415 A > G

Met139Val

.

23.4

0.879

A-Dom

Pathogenic

Argentina

Amnestic AD

c.428 T > C

Ile143Thr

.

26.8

0.985

A-Dom

Pathogenic

Colombia

Amnestic AD

c.519 G > T

Leu173Phe

.

25.8

0.923

A-Dom

Pathogenic

Colombia

Amnestic AD

c.1223 T > C

Ile408Thr

.

27.4

0.877

Unknown

VUS

Peru

Amnestic AD

VCP

c.283 C > T

Arg50Cys

.

27.1

0.606

A-Dom

Pathogenic for essential tremor

Colombia

Amnestic AD

TARDBP

c.1147 A > G

Ile383Val

<0.00001

0.308

0.377

A-Dom

Pathogenic

Colombia

usFTD

  1. AA amino acid, A-Dom autosomal dominant; three affected individuals in two generations. Positive family history; at least one first or second-degree relative with neurodegeneration. usAD unspecified Alzheimer’s disease, bvFTD behavioral variant frontotemporal dementia, FTD-PSP frontotemporal dementia-progressive supranuclear paralysis, svPPA semantic variant primary progressive aphasia, AD Alzheimer’s disease, VUS variant of unknown significance. PVS1: The PVS1 rule is related to null variants, which usually result in a loss-of-function effect. These variants include stop-gain, frameshift insertions or deletions, splice donor or acceptor, or a start-loss.
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