2-70150447-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017880.3(C2orf42):c.1634G>A(p.Arg545Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,613,984 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017880.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C2orf42 | NM_017880.3 | c.1634G>A | p.Arg545Gln | missense_variant | Exon 10 of 10 | ENST00000264434.7 | NP_060350.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C2orf42 | ENST00000264434.7 | c.1634G>A | p.Arg545Gln | missense_variant | Exon 10 of 10 | 1 | NM_017880.3 | ENSP00000264434.2 | ||
C2orf42 | ENST00000420306.1 | c.1634G>A | p.Arg545Gln | missense_variant | Exon 8 of 8 | 2 | ENSP00000404515.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251484Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135914
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727224
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1634G>A (p.R545Q) alteration is located in exon 10 (coding exon 8) of the C2orf42 gene. This alteration results from a G to A substitution at nucleotide position 1634, causing the arginine (R) at amino acid position 545 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