13-41071551-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007187.5(WBP4):c.464G>T(p.Gly155Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007187.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WBP4 | NM_007187.5 | c.464G>T | p.Gly155Val | missense_variant | Exon 6 of 10 | ENST00000379487.5 | NP_009118.1 | |
WBP4 | XM_005266245.3 | c.557G>T | p.Gly186Val | missense_variant | Exon 6 of 10 | XP_005266302.1 | ||
WBP4 | XM_047430071.1 | c.19-1231G>T | intron_variant | Intron 1 of 4 | XP_047286027.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.464G>T (p.G155V) alteration is located in exon 6 (coding exon 6) of the WBP4 gene. This alteration results from a G to T substitution at nucleotide position 464, causing the glycine (G) at amino acid position 155 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.