11:17424218-17424218 G > A

Classification

Category 1
CMH MAF 3 / 15408 samples (0.0195%)
3 het., 0 hom. (100%)
3 / 30816 total alleles (0.00974%)

gene: ABCC8 synonym(s): ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ABCC8, ENSG00000006071

OMIM
OMIM:600509: ABCC8 (Autosomal dominant inheritance)
OMIM:125853: Diabetes mellitus, noninsulin-dependent
OMIM:618857: Diabetes mellitus, permanent neonatal 3, with or without neurologic features
OMIM:610374: Diabetes mellitus, transient neonatal 2
OMIM:256450: Hyperinsulinemic hypoglycemia, familial, 1
OMIM:240800: Hypoglycemia of infancy, leucine-sensitive

NM_000352.3 [CDS]
hgvs_c: NM_000352.3:c.3640C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 3766
CDS pos: 3640
translation impact: non_synonymous
protein sequence: NP_000343.2
AA pos: 1214
hgvs_p: NP_000343.2:p.Arg1214Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

rs139964066
TOPMED_MAF = 0.00002389143730886

235633
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Persistent hyperinsulinemic hypoglycemia of infancy
clinvar_disease = Familial hyperinsulinism

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000227,0.000154

ExAC Finnish, (1 / 6614), 0.0151%
COSMIC Mutation ID = COSV56851163
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Finnish, (4 / 25120), 0.0159%