12-48966270-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM5PP3_Strong
The NM_003394.4(WNT10B):c.995G>A(p.Arg332Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000109 in 1,461,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R332W) has been classified as Pathogenic.
Frequency
Consequence
NM_003394.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WNT10B | ENST00000301061.9 | c.995G>A | p.Arg332Gln | missense_variant | Exon 5 of 5 | 1 | NM_003394.4 | ENSP00000301061.4 | ||
WNT10B | ENST00000407467 | c.*277G>A | 3_prime_UTR_variant | Exon 6 of 6 | 2 | ENSP00000384691.1 | ||||
WNT10B | ENST00000403957 | c.*277G>A | 3_prime_UTR_variant | Exon 6 of 6 | 5 | ENSP00000385980.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250814Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135716
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461828Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727214
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
- -
Split hand-foot malformation 6 Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at