13-51584778-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_052950.4(WDFY2):c.91G>C(p.Val31Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,572 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_052950.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
WDFY2 | ENST00000298125.7 | c.91G>C | p.Val31Leu | missense_variant | Exon 1 of 12 | 1 | NM_052950.4 | ENSP00000298125.4 | ||
WDFY2 | ENST00000612477.1 | c.91G>C | p.Val31Leu | missense_variant | Exon 1 of 2 | 2 | ENSP00000482942.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461572Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727112
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.91G>C (p.V31L) alteration is located in exon 1 (coding exon 1) of the WDFY2 gene. This alteration results from a G to C substitution at nucleotide position 91, causing the valine (V) at amino acid position 31 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.