3-55479572-G-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_003392.7(WNT5A):c.141-8C>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,569,866 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003392.7 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WNT5A | NM_003392.7 | c.141-8C>G | splice_region_variant, intron_variant | Intron 2 of 4 | ENST00000264634.9 | NP_003383.4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000234 AC: 54AN: 230506Hom.: 0 AF XY: 0.000224 AC XY: 28AN XY: 124996
GnomAD4 exome AF: 0.000130 AC: 184AN: 1417600Hom.: 0 Cov.: 30 AF XY: 0.000119 AC XY: 83AN XY: 699200
GnomAD4 genome AF: 0.000171 AC: 26AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74448
ClinVar
Submissions by phenotype
Autosomal dominant Robinow syndrome 1 Uncertain:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at