rs34944716
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP7
The NM_016373.4(WWOX):c.351C>A(p.Leu117=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,461,886 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L117L) has been classified as Benign.
Frequency
Consequence
NM_016373.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WWOX | NM_016373.4 | c.351C>A | p.Leu117= | synonymous_variant | 4/9 | ENST00000566780.6 | |
WWOX | NM_001291997.2 | c.12C>A | p.Leu4= | synonymous_variant | 3/8 | ||
WWOX | NM_130791.5 | c.351C>A | p.Leu117= | synonymous_variant | 4/6 | ||
WWOX | NR_120436.3 | n.590C>A | non_coding_transcript_exon_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WWOX | ENST00000566780.6 | c.351C>A | p.Leu117= | synonymous_variant | 4/9 | 1 | NM_016373.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249532Hom.: 0 AF XY: 0.0000812 AC XY: 11AN XY: 135392
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461886Hom.: 3 Cov.: 34 AF XY: 0.0000371 AC XY: 27AN XY: 727244
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at