1:120469147-120469147 T > C

Classification

Category 5 curation
CMH MAF 207 / 13145 samples (1.57%)
204 het., 3 hom. (98.6%)
210 / 26290 total alleles (0.799%)

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.3980A>G
reference AA: D
variant AA: G
reference codon: gAt
variant codon: gGt
cDNA pos: 4277
CDS pos: 3980
translation impact: non_synonymous
protein sequence: NP_077719.2
AA pos: 1327
hgvs_p: NP_077719.2:p.Asp1327Gly
blosum: -1
SIFT: tolerated (0.35)
PolyPhen2: benign (0.174)

rs61752484
GMAF = 0.01098
TOPMED_MAF = 0.00463493883792048

134972
clinvar_significance = Benign
clinvar_disease = Hajdu-Cheney syndrome

EVS
EVS MAF (European American/African American/All) = 0.006977,0.001135,0.004998

ExAC South Asian, (787 / 12260), 6.42%
COSMIC Mutation ID = COSV56685291
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD South Asian, (1482 / 28686), 5.17% curated_classification = 5