1:22161190-22161190 C > T

Classification

Category 4 curation
CMH MAF 91 / 14969 samples (0.608%)
90 het., 1 hom. (98.9%)
92 / 29938 total alleles (0.307%)

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

TRNAN-GUU [intron]

gene: HSPG2 synonym(s): HSPG, PLC, PRCAN, SJA, SJS, SJS1, HSPG2, ENSG00000142798

OMIM
OMIM:142461: HSPG2 (Autosomal recessive inheritance)
OMIM:224410: Dyssegmental dysplasia, Silverman-Handmaker type
OMIM:255800: Schwartz-Jampel syndrome, type 1

NM_005529.5 [CDS]
hgvs_c: NM_005529.5:c.10702G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 10742
CDS pos: 10702
translation impact: non_synonymous
protein sequence: NP_005520.4
AA pos: 3568
hgvs_p: NP_005520.4:p.Val3568Ile
blosum: 3
PolyPhen2: probably_damaging (0.999)

rs115616224
GMAF = 0.008986
TOPMED_MAF = 0.00989105504587155

446053
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000465,0.029732,0.010380

ExAC African, (275 / 10362), 2.65%
COSMIC Mutation ID = COSV65933142
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (692 / 24964), 2.77% curated_classification = 4