chr9-133407069-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020385.4(REXO4):c.1153C>G(p.Gln385Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020385.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
REXO4 | ENST00000371942.8 | c.1153C>G | p.Gln385Glu | missense_variant | Exon 8 of 8 | 1 | NM_020385.4 | ENSP00000361010.3 | ||
REXO4 | ENST00000371935.6 | c.637C>G | p.Gln213Glu | missense_variant | Exon 6 of 6 | 3 | ENSP00000361003.2 | |||
REXO4 | ENST00000454825.1 | c.637C>G | p.Gln213Glu | missense_variant | Exon 6 of 6 | 3 | ENSP00000394229.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1153C>G (p.Q385E) alteration is located in exon 8 (coding exon 8) of the REXO4 gene. This alteration results from a C to G substitution at nucleotide position 1153, causing the glutamine (Q) at amino acid position 385 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