rs748420070
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_058238.3(WNT7B):āc.773G>Cā(p.Arg258Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R258H) has been classified as Uncertain significance.
Frequency
Consequence
NM_058238.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WNT7B | ENST00000339464.9 | c.773G>C | p.Arg258Pro | missense_variant | Exon 4 of 4 | 1 | NM_058238.3 | ENSP00000341032.4 | ||
WNT7B | ENST00000409496.7 | c.785G>C | p.Arg262Pro | missense_variant | Exon 4 of 4 | 2 | ENSP00000386546.3 | |||
WNT7B | ENST00000410089.5 | c.725G>C | p.Arg242Pro | missense_variant | Exon 4 of 4 | 5 | ENSP00000386781.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251028Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135840
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461282Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726980
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at