chr2-105337669-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024093.3(C2orf49):āc.82C>Gā(p.Leu28Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000704 in 141,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024093.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
C2orf49 | ENST00000258457.7 | c.82C>G | p.Leu28Val | missense_variant | Exon 1 of 4 | 1 | NM_024093.3 | ENSP00000258457.2 | ||
C2orf49 | ENST00000410049.1 | c.82C>G | p.Leu28Val | missense_variant | Exon 1 of 5 | 1 | ENSP00000386361.1 | |||
C2orf49-DT | ENST00000610036.2 | n.-160G>C | upstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes AF: 0.00000704 AC: 1AN: 141960Hom.: 0 Cov.: 28
GnomAD4 exome Cov.: 44
GnomAD4 genome AF: 0.00000704 AC: 1AN: 141960Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 68730
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at