1:119964831-119964831 T > C

Classification

Category 5 curation
CMH MAF 104 / 14969 samples (0.695%)
100 het., 4 hom. (96.2%)
108 / 29938 total alleles (0.361%)

gene: HSD3B2 synonym(s): HSD3B, HSDB, SDR11E2, HSD3B2, ENSG00000203859

OMIM
OMIM:613890: HSD3B2
OMIM:201810: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

NM_000198.3 [CDS]
hgvs_c: NM_000198.3:c.707T>C
reference AA: L
variant AA: S
reference codon: tTg
variant codon: tCg
cDNA pos: 879
CDS pos: 707
translation impact: non_synonymous
protein sequence: NP_000189.1
AA pos: 236
hgvs_p: NP_000189.1:p.Leu236Ser
blosum: -2
SIFT: tolerated (0.35)
PolyPhen2: benign (0.034)

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

TRNAN-GUU [intron]

rs35887327
GMAF = 0.01238
TOPMED_MAF = 0.01284562945973496

36370
clinvar_significance = Uncertain_significance
clinvar_disease = Congenital adrenal hyperplasia

EVS
EVS MAF (European American/African American/All) = 0.000116,0.042442,0.014455

ExAC African, (410 / 10122), 4.05%
COSMIC Mutation ID = COSV99054936
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = false

gnomAD African, (993 / 24728), 4.02% curated_classification = 5