chr2-68134771-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138458.4(DNAAF10):c.797G>A(p.Arg266Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,611,182 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138458.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAAF10 | NM_138458.4 | c.797G>A | p.Arg266Gln | missense_variant | Exon 7 of 8 | ENST00000295121.11 | NP_612467.1 | |
DNAAF10 | NM_001256476.2 | c.797G>A | p.Arg266Gln | missense_variant | Exon 7 of 7 | NP_001243405.1 | ||
DNAAF10 | NR_046234.2 | n.768G>A | non_coding_transcript_exon_variant | Exon 7 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAAF10 | ENST00000295121.11 | c.797G>A | p.Arg266Gln | missense_variant | Exon 7 of 8 | 1 | NM_138458.4 | ENSP00000295121.6 | ||
ENSG00000273398 | ENST00000406334.3 | n.*814G>A | non_coding_transcript_exon_variant | Exon 14 of 15 | 2 | ENSP00000384974.3 | ||||
ENSG00000273398 | ENST00000406334.3 | n.*814G>A | 3_prime_UTR_variant | Exon 14 of 15 | 2 | ENSP00000384974.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459034Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725852
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.797G>A (p.R266Q) alteration is located in exon 7 (coding exon 7) of the WDR92 gene. This alteration results from a G to A substitution at nucleotide position 797, causing the arginine (R) at amino acid position 266 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