2-68157284-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138458.4(DNAAF10):c.160G>A(p.Gly54Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000361 in 1,613,950 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.160G>A | p.Gly54Arg | missense_variant | Exon 1 of 8 | ENST00000295121.11 | NP_612467.1 | |
DNAAF10 | NM_001256476.2 | c.160G>A | p.Gly54Arg | missense_variant | Exon 1 of 7 | NP_001243405.1 | ||
DNAAF10 | NR_046234.2 | n.154+90G>A | intron_variant | Intron 1 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAAF10 | ENST00000295121.11 | c.160G>A | p.Gly54Arg | missense_variant | Exon 1 of 8 | 1 | NM_138458.4 | ENSP00000295121.6 | ||
ENSG00000273398 | ENST00000406334.3 | n.*177G>A | non_coding_transcript_exon_variant | Exon 8 of 15 | 2 | ENSP00000384974.3 | ||||
ENSG00000273398 | ENST00000406334.3 | n.*177G>A | 3_prime_UTR_variant | Exon 8 of 15 | 2 | ENSP00000384974.3 |
Frequencies
GnomAD3 genomes AF: 0.000276 AC: 42AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000308 AC: 77AN: 249876Hom.: 0 AF XY: 0.000311 AC XY: 42AN XY: 135114
GnomAD4 exome AF: 0.000370 AC: 541AN: 1461656Hom.: 0 Cov.: 31 AF XY: 0.000375 AC XY: 273AN XY: 727124
GnomAD4 genome AF: 0.000276 AC: 42AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.160G>A (p.G54R) alteration is located in exon 1 (coding exon 1) of the WDR92 gene. This alteration results from a G to A substitution at nucleotide position 160, causing the glycine (G) at amino acid position 54 to be replaced by an arginine (R). 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