20-45579234-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_130896.3(WFDC8):c.14G>A(p.Arg5Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000015 in 1,461,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict 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. R5L) has been classified as Uncertain significance.
Frequency
Consequence
NM_130896.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WFDC8 | NM_130896.3 | c.14G>A | p.Arg5Gln | missense_variant | Exon 1 of 6 | ENST00000289953.3 | NP_570966.2 | |
WFDC8 | NM_181510.3 | c.14G>A | p.Arg5Gln | missense_variant | Exon 1 of 7 | NP_852611.2 | ||
WFDC8 | XM_017028119.2 | c.14G>A | p.Arg5Gln | missense_variant | Exon 1 of 5 | XP_016883608.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251394Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135868
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461832Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727220
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at