15:28230247-28230247 C > T

Classification

Category 1
CMH MAF 158 / 13144 samples (1.2%)
157 het., 1 hom. (99.4%)
159 / 26288 total alleles (0.605%)

gene: OCA2 synonym(s): BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, OCA2, ENSG00000104044

OMIM
OMIM:611409: OCA2 (Autosomal recessive inheritance)
OMIM:203200: Albinism, brown oculocutaneous
OMIM:203200: Albinism, oculocutaneous, type II
OMIM:227220: [Skin/hair/eye pigmentation 1, blond/brown hair]
OMIM:227220: [Skin/hair/eye pigmentation 1, blue/nonblue eyes]

NM_000275.2 [CDS]
hgvs_c: NM_000275.2:c.1327G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1437
CDS pos: 1327
translation impact: non_synonymous
protein sequence: NP_000266.2
AA pos: 443
hgvs_p: NP_000266.2:p.Val443Ile
blosum: 3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

rs121918166
GMAF = 0.0007987
TOPMED_MAF = 0.00375095565749235

955
clinvar_significance = Pathogenic
clinvar_disease = Inborn genetic diseases
clinvar_disease = Tyrosinase-positive oculocutaneous albinism
clinvar_disease = Skin/hair/eye pigmentation

EVS
EVS MAF (European American/African American/All) = 0.006279,0.002270,0.004921

ExAC Non-Finnish, (285 / 65832), 0.433%
COSMIC Mutation ID = COSV62340961
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD North-Western European, (349 / 50240), 0.695%