1-93207298-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001378204.1(CCDC18):c.1109G>A(p.Arg370His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,613,428 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC18 | NM_001378204.1 | c.1109G>A | p.Arg370His | missense_variant | 9/29 | ENST00000690025.1 | NP_001365133.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC18 | ENST00000690025.1 | c.1109G>A | p.Arg370His | missense_variant | 9/29 | NM_001378204.1 | ENSP00000510597.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152048Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249272Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135248
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461262Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 726950
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 03, 2024 | The c.1109G>A (p.R370H) alteration is located in exon 9 (coding exon 8) of the CCDC18 gene. This alteration results from a G to A substitution at nucleotide position 1109, causing the arginine (R) at amino acid position 370 to be replaced by a histidine (H). 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