rs1051751
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003391.3(WNT2):c.881G>T(p.Cys294Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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_003391.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WNT2 | NM_003391.3 | c.881G>T | p.Cys294Phe | missense_variant | 5/5 | ENST00000265441.8 | |
WNT2 | NR_024047.2 | n.886G>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WNT2 | ENST00000265441.8 | c.881G>T | p.Cys294Phe | missense_variant | 5/5 | 1 | NM_003391.3 | P1 | |
WNT2 | ENST00000449446.5 | c.*484G>T | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 3 | ||||
WNT2 | ENST00000647844.1 | c.*796G>T | 3_prime_UTR_variant, NMD_transcript_variant | 6/6 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at