chr1-22120100-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_030761.5(WNT4):c.1006G>A(p.Val336Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,612,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_030761.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249508Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135200
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1460372Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 20AN XY: 726530
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1006G>A (p.V336I) alteration is located in exon 5 (coding exon 5) of the WNT4 gene. This alteration results from a G to A substitution at nucleotide position 1006, causing the valine (V) at amino acid position 336 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Mullerian aplasia and hyperandrogenism;C2678492:SERKAL syndrome Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at