1:120458122-120458122 A > T

Classification

Category 4 curation
CMH MAF 76 / 13144 samples (0.578%)
76 het., 0 hom. (100%)
76 / 26288 total alleles (0.289%)

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

TRNAN-GUU [intron]

gene: NOTCH2 synonym(s): AGS2, HJCYS, hN2, NOTCH2, ENSG00000134250

OMIM
OMIM:600275: NOTCH2 (Autosomal dominant inheritance)
OMIM:610205: Alagille syndrome 2
OMIM:102500: Hajdu-Cheney syndrome

NM_024408.3 [CDS]
hgvs_c: NM_024408.3:c.7223T>A
reference AA: L
variant AA: H
reference codon: cTc
variant codon: cAc
cDNA pos: 7520
CDS pos: 7223
translation impact: non_synonymous
protein sequence: NP_077719.2
AA pos: 2408
hgvs_p: NP_077719.2:p.Leu2408His
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.968)

rs35586704
GMAF = 0.0007987
TOPMED_MAF = 0.00208651885830784

134987
clinvar_significance = Likely_benign
clinvar_disease = Hajdu-Cheney syndrome
clinvar_disease = Hirschsprung disease 1

EVS
EVS MAF (European American/African American/All) = 0.002558,0.001135,0.002076

ExAC Non-Finnish, (172 / 66694), 0.258%
gnomAD North-Western European, (206 / 50786), 0.406% curated_classification = 4