7-151381740-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198285.3(WDR86):c.973G>A(p.Gly325Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000456 in 1,514,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198285.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152078Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000839 AC: 9AN: 107300Hom.: 0 AF XY: 0.000121 AC XY: 7AN XY: 57990
GnomAD4 exome AF: 0.0000316 AC: 43AN: 1362098Hom.: 0 Cov.: 53 AF XY: 0.0000284 AC XY: 19AN XY: 669978
GnomAD4 genome AF: 0.000171 AC: 26AN: 152194Hom.: 0 Cov.: 34 AF XY: 0.000121 AC XY: 9AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.973G>A (p.G325S) alteration is located in exon 6 (coding exon 6) of the WDR86 gene. This alteration results from a G to A substitution at nucleotide position 973, causing the glycine (G) at amino acid position 325 to be replaced by a serine (S). 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