17-44967733-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006688.5(C1QL1):c.316G>C(p.Gly106Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000119 in 1,603,154 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006688.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151970Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000442 AC: 10AN: 226232Hom.: 1 AF XY: 0.0000639 AC XY: 8AN XY: 125106
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1451184Hom.: 1 Cov.: 32 AF XY: 0.0000180 AC XY: 13AN XY: 721600
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151970Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.316G>C (p.G106R) alteration is located in exon 1 (coding exon 1) of the C1QL1 gene. This alteration results from a G to C substitution at nucleotide position 316, causing the glycine (G) at amino acid position 106 to be replaced by an arginine (R). 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