chr3-49007427-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000395474.7(WDR6):c.86T>G(p.Ile29Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,457,566 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000395474.7 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WDR6 | NM_018031.6 | c.-5T>G | 5_prime_UTR_variant | 1/6 | ENST00000608424.6 | ||
WDR6 | NM_001320546.3 | c.-297T>G | 5_prime_UTR_variant | 1/6 | |||
WDR6 | XM_047447371.1 | c.-5T>G | 5_prime_UTR_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR6 | ENST00000608424.6 | c.-5T>G | 5_prime_UTR_variant | 1/6 | 1 | NM_018031.6 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457566Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724576
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2021 | The c.86T>G (p.I29S) alteration is located in exon 1 (coding exon 1) of the WDR6 gene. This alteration results from a T to G substitution at nucleotide position 86, causing the isoleucine (I) at amino acid position 29 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
Publications
No publications associated with this variant yet.