11:128709940-128709940 T > C

Classification

Category 5 curation
CMH MAF 406 / 14969 samples (2.71%)
377 het., 29 hom. (92.9%)
435 / 29938 total alleles (1.45%)

gene: KCNJ1 synonym(s): KIR1.1, ROMK, ROMK1, KCNJ1, ENSG00000151704

OMIM
OMIM:600359: KCNJ1 (Autosomal recessive inheritance)
OMIM:241200: Bartter syndrome, type 2

NM_000220.4 [CDS]
hgvs_c: NM_000220.4:c.256A>G
reference AA: T
variant AA: A
reference codon: Aca
variant codon: Gca
cDNA pos: 373
CDS pos: 256
translation impact: non_synonymous
protein sequence: NP_000211.1
AA pos: 86
hgvs_p: NP_000211.1:p.Thr86Ala
blosum: 0
SIFT: tolerated (1.0)
PolyPhen2: benign (0.023)

rs41302407
GMAF = 0.01677
TOPMED_MAF = 0.00983530835881753

235236
clinvar_significance = Benign_Likely_benign
clinvar_disease = Antenatal Bartter Syndrome

EVS
EVS MAF (European American/African American/All) = 0.000582,0.001136,0.000769

ExAC America/Latino, (1806 / 11572), 15.6%
COSMIC Mutation ID = COSV60662458
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD America/Latino, (5148 / 35414), 14.5% curated_classification = 5