3-55468138-TAAAAAAA-TA
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003392.7(WNT5A):c.*1948_*1953delTTTTTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00092 ( 0 hom., cov: 0)
Failed GnomAD Quality Control
Consequence
WNT5A
NM_003392.7 3_prime_UTR
NM_003392.7 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.885
Genes affected
WNT5A (HGNC:12784): (Wnt family member 5A) The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAd4 at 123 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WNT5A | NM_003392.7 | c.*1948_*1953delTTTTTT | 3_prime_UTR_variant | Exon 5 of 5 | ENST00000264634.9 | NP_003383.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WNT5A | ENST00000264634 | c.*1948_*1953delTTTTTT | 3_prime_UTR_variant | Exon 5 of 5 | 1 | NM_003392.7 | ENSP00000264634.4 | |||
WNT5A | ENST00000474267 | c.*1948_*1953delTTTTTT | 3_prime_UTR_variant | Exon 6 of 6 | 5 | ENSP00000417310.1 |
Frequencies
GnomAD3 genomes AF: 0.000918 AC: 123AN: 133990Hom.: 0 Cov.: 0
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GnomAD4 genome AF: 0.000918 AC: 123AN: 133998Hom.: 0 Cov.: 0 AF XY: 0.00102 AC XY: 65AN XY: 63706
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at