1:110171120-110171120 A > G

Classification

Category 3

five_prime_flank

CMH MAF

44 / 6955 samples (0.633%)
43 het., 1 hom. (97.7%)
45 / 13910 total alleles (0.324%)

Genes

Consequences
gene: AMPD2 synonym(s): AMPD2, ENSG00000116337

NM_001257360.1 [intron] Reportable
hgvs_c: NM_001257360.1:c.1569+3A>G
splice impact: five_prime_flank
protein sequence: NP_001244289.1

NM_001257361.1 [intron]
hgvs_c: NM_001257361.1:c.1215+3A>G
protein sequence: NP_001244290.1

NM_004037.7 [intron]
hgvs_c: NM_004037.7:c.1569+3A>G
protein sequence: NP_004028.3

NM_139156.3 [intron]
hgvs_c: NM_139156.3:c.1326+3A>G
protein sequence: NP_631895.1

NM_203404.1 [intron]
hgvs_c: NM_203404.1:c.1212+3A>G
protein sequence: NP_981949.1

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

dbSNP

rs41280332
GMAF = 0.001797
TOPMED_MAF = 0.00282715341488277

ClinVar

434144
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Spastic paraplegia 63

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.003605,0.000681,0.002614

ExAC

ExAC
Ethnicity Count / Number MAF
African 4 / 10124 0.0395%
America/Latino 14 / 11574 0.121%
East Asian 0 / 8630 0%
Finnish 24 / 6614 0.363%
Non-Finnish 241 / 66458 0.363%
Other 9 / 908 0.991%
South Asian 19 / 16482 0.115%
Total MAF 311 / 120790 0.257%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 13 / 24004 0.0542%
America/Latino 63 / 34416 0.183%
Ashkenazi Jewish 2 / 10146 0.0197%
East Asian 0 / 18864 0%
Finnish 107 / 24198 0.442%
Non-Finnish 552 / 126584 0.436%
Other 21 / 6440 0.326%
South Asian 30 / 30782 0.0975%
Total MAF 788 / 275434 0.286%


Export Variant

Curation

Uncertain Significance