chr12-121923947-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144668.6(CFAP251):c.704A>G(p.Asp235Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144668.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP251 | NM_144668.6 | c.704A>G | p.Asp235Gly | missense_variant | 3/22 | ENST00000288912.9 | |
CFAP251 | NM_001178003.2 | c.704A>G | p.Asp235Gly | missense_variant | 3/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP251 | ENST00000288912.9 | c.704A>G | p.Asp235Gly | missense_variant | 3/22 | 1 | NM_144668.6 | ||
CFAP251 | ENST00000397454.2 | c.704A>G | p.Asp235Gly | missense_variant | 3/18 | 1 | P1 | ||
CFAP251 | ENST00000540779.1 | n.602A>G | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 24, 2022 | The c.704A>G (p.D235G) alteration is located in exon 3 (coding exon 2) of the WDR66 gene. This alteration results from a A to G substitution at nucleotide position 704, causing the aspartic acid (D) at amino acid position 235 to be replaced by a glycine (G). 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.