11-33755788-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_012175.4(FBXO3):c.661G>A(p.Val221Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0797 in 1,613,120 control chromosomes in the GnomAD database, including 5,953 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_012175.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0642 AC: 9775AN: 152158Hom.: 460 Cov.: 32
GnomAD3 exomes AF: 0.0661 AC: 16608AN: 251280Hom.: 749 AF XY: 0.0668 AC XY: 9066AN XY: 135796
GnomAD4 exome AF: 0.0814 AC: 118853AN: 1460844Hom.: 5493 Cov.: 31 AF XY: 0.0805 AC XY: 58523AN XY: 726802
GnomAD4 genome AF: 0.0642 AC: 9778AN: 152276Hom.: 460 Cov.: 32 AF XY: 0.0611 AC XY: 4546AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 30448480) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at