chr18-74353766-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001174123.2(C18orf63):āc.1499C>Gā(p.Ala500Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000228 in 1,535,682 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001174123.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C18orf63 | NM_001174123.2 | c.1499C>G | p.Ala500Gly | missense_variant | 12/14 | ENST00000579455.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C18orf63 | ENST00000579455.2 | c.1499C>G | p.Ala500Gly | missense_variant | 12/14 | 1 | NM_001174123.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151976Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000146 AC: 2AN: 137150Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 74448
GnomAD4 exome AF: 0.0000130 AC: 18AN: 1383706Hom.: 0 Cov.: 35 AF XY: 0.00000586 AC XY: 4AN XY: 682812
GnomAD4 genome AF: 0.000112 AC: 17AN: 151976Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.1499C>G (p.A500G) alteration is located in exon 12 (coding exon 11) of the C18orf63 gene. This alteration results from a C to G substitution at nucleotide position 1499, causing the alanine (A) at amino acid position 500 to be replaced by a glycine (G). 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