rs3793771
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003393.4(WNT8B):āc.32G>Cā(p.Cys11Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.221 in 1,612,156 control chromosomes in the GnomAD database, including 40,337 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003393.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WNT8B | NM_003393.4 | c.32G>C | p.Cys11Ser | missense_variant | 1/6 | ENST00000343737.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNT8B | ENST00000343737.6 | c.32G>C | p.Cys11Ser | missense_variant | 1/6 | 1 | NM_003393.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.213 AC: 32384AN: 151952Hom.: 3535 Cov.: 32
GnomAD3 exomes AF: 0.208 AC: 52131AN: 250590Hom.: 5744 AF XY: 0.211 AC XY: 28516AN XY: 135442
GnomAD4 exome AF: 0.222 AC: 323800AN: 1460084Hom.: 36783 Cov.: 32 AF XY: 0.223 AC XY: 161912AN XY: 726382
GnomAD4 genome ? AF: 0.213 AC: 32427AN: 152072Hom.: 3554 Cov.: 32 AF XY: 0.213 AC XY: 15829AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at