NM_024644.5:c.80G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024644.5(RIOX1):c.80G>A(p.Gly27Glu) 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. 8/12 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024644.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RIOX1 | ENST00000304061.8 | c.80G>A | p.Gly27Glu | missense_variant | Exon 1 of 1 | 6 | NM_024644.5 | ENSP00000477507.1 | ||
HEATR4 | ENST00000553558.6 | c.2844+1969C>T | intron_variant | Intron 17 of 17 | 2 | NM_001220484.1 | ENSP00000450444.2 | |||
HEATR4 | ENST00000334988.2 | c.2844+1969C>T | intron_variant | Intron 16 of 16 | 1 | ENSP00000335447.2 | ||||
HEATR4 | ENST00000565094.1 | n.25+659C>T | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1449474Hom.: 0 Cov.: 83 AF XY: 0.00 AC XY: 0AN XY: 720524
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80G>A (p.G27E) alteration is located in exon 1 (coding exon 1) of the C14orf169 gene. This alteration results from a G to A substitution at nucleotide position 80, causing the glycine (G) at amino acid position 27 to be replaced by a glutamic acid (E). 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.