20-45704921-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000335769.2(WFDC10B):c.71G>A(p.Cys24Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,942 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000335769.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WFDC10B | NM_172006.2 | c.-133G>A | 5_prime_UTR_variant | 1/4 | ENST00000330523.10 | ||
WFDC13 | NM_172005.2 | c.239+327C>T | intron_variant | ENST00000305479.3 | |||
WFDC10B | NM_172131.2 | c.71G>A | p.Cys24Tyr | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WFDC10B | ENST00000335769.2 | c.71G>A | p.Cys24Tyr | missense_variant | 1/3 | 1 | |||
WFDC10B | ENST00000330523.10 | c.-133G>A | 5_prime_UTR_variant | 1/4 | 1 | NM_172006.2 | P1 | ||
WFDC13 | ENST00000305479.3 | c.239+327C>T | intron_variant | 1 | NM_172005.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152152Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461790Hom.: 3 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727198
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152152Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.71G>A (p.C24Y) alteration is located in exon 1 (coding exon 1) of the WFDC10B gene. This alteration results from a G to A substitution at nucleotide position 71, causing the cysteine (C) at amino acid position 24 to be replaced by a tyrosine (Y). 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