chr10-48723473-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001394531.1(WDFY4):c.497T>A(p.Leu166Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L166R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001394531.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDFY4 | NM_001394531.1 | c.497T>A | p.Leu166Gln | missense_variant | 5/62 | ENST00000325239.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDFY4 | ENST00000325239.12 | c.497T>A | p.Leu166Gln | missense_variant | 5/62 | 5 | NM_001394531.1 | P1 | |
WDFY4 | ENST00000360890.6 | c.497T>A | p.Leu166Gln | missense_variant | 5/11 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2023 | The c.497T>A (p.L166Q) alteration is located in exon 5 (coding exon 4) of the WDFY4 gene. This alteration results from a T to A substitution at nucleotide position 497, causing the leucine (L) at amino acid position 166 to be replaced by a glutamine (Q). 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.