1:153784559-153784559 G > A

Classification

Category 4 curation
CMH MAF 168 / 13144 samples (1.28%)
168 het., 0 hom. (100%)
168 / 26288 total alleles (0.639%)

gene: GATAD2B synonym(s): MRD18, P66beta, p68, RP11-216N14.6, GATAD2B, ENSG00000143614

OMIM
OMIM:614998: GATAD2B
OMIM:615074: Mental retardation, autosomal dominant 18

NM_020699.2 [CDS]
hgvs_c: NM_020699.2:c.1469C>T
reference AA: A
variant AA: V
reference codon: gCt
variant codon: gTt
cDNA pos: 1713
CDS pos: 1469
translation impact: non_synonymous
protein sequence: NP_065750.1
AA pos: 490
hgvs_p: NP_065750.1:p.Ala490Val
blosum: 0
SIFT: tolerated (0.07)
PolyPhen2: benign (0.005)

rs145131801
GMAF = 0.002196
TOPMED_MAF = 0.00490570846075433

211066
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.007326,0.002497,0.005690

ExAC Non-Finnish, (550 / 66698), 0.825%
gnomAD Swedish, (302 / 26134), 1.16% curated_classification = 4