1-93264875-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001378204.1(CCDC18):āc.3859G>Cā(p.Ala1287Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,386 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1287T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001378204.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC18 | NM_001378204.1 | c.3859G>C | p.Ala1287Pro | missense_variant | Exon 27 of 29 | ENST00000690025.1 | NP_001365133.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC18 | ENST00000690025.1 | c.3859G>C | p.Ala1287Pro | missense_variant | Exon 27 of 29 | NM_001378204.1 | ENSP00000510597.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459386Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726206
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.