rs79771882
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_016373.4(WWOX):c.885G>A(p.Arg295Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00891 in 1,614,140 control chromosomes in the GnomAD database, including 114 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_016373.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WWOX | NM_016373.4 | c.885G>A | p.Arg295Arg | synonymous_variant | Exon 8 of 9 | ENST00000566780.6 | NP_057457.1 | |
WWOX | NM_001291997.2 | c.546G>A | p.Arg182Arg | synonymous_variant | Exon 7 of 8 | NP_001278926.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00900 AC: 1369AN: 152132Hom.: 13 Cov.: 32
GnomAD3 exomes AF: 0.00857 AC: 2139AN: 249566Hom.: 32 AF XY: 0.00840 AC XY: 1137AN XY: 135400
GnomAD4 exome AF: 0.00890 AC: 13013AN: 1461888Hom.: 101 Cov.: 32 AF XY: 0.00862 AC XY: 6269AN XY: 727246
GnomAD4 genome AF: 0.00899 AC: 1368AN: 152252Hom.: 13 Cov.: 32 AF XY: 0.0102 AC XY: 757AN XY: 74422
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:1
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:2
WWOX: BP4, BP7, BS2 -
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Autosomal recessive spinocerebellar ataxia 12;C3463992:Developmental and epileptic encephalopathy, 1 Benign:1
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WWOX-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at