16-69798745-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001270454.2(WWP2):c.134C>T(p.Ala45Val) variant causes a missense change. The variant allele was found at a frequency of 0.000088 in 1,613,806 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001270454.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WWP2 | NM_001270454.2 | c.134C>T | p.Ala45Val | missense_variant | Exon 3 of 24 | ENST00000359154.7 | NP_001257383.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 151970Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251332Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135824
GnomAD4 exome AF: 0.0000814 AC: 119AN: 1461836Hom.: 0 Cov.: 30 AF XY: 0.0000798 AC XY: 58AN XY: 727218
GnomAD4 genome AF: 0.000151 AC: 23AN: 151970Hom.: 0 Cov.: 31 AF XY: 0.000229 AC XY: 17AN XY: 74210
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.134C>T (p.A45V) alteration is located in exon 4 (coding exon 2) of the WWP2 gene. This alteration results from a C to T substitution at nucleotide position 134, causing the alanine (A) at amino acid position 45 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at