9-36191078-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001833.4(CLTA):āc.22G>Cā(p.Gly8Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000676 in 1,581,876 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001833.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000129 AC: 28AN: 216238Hom.: 0 AF XY: 0.000150 AC XY: 18AN XY: 119704
GnomAD4 exome AF: 0.0000706 AC: 101AN: 1429764Hom.: 1 Cov.: 31 AF XY: 0.0000815 AC XY: 58AN XY: 711252
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.22G>C (p.G8R) alteration is located in exon 1 (coding exon 1) of the CLTA gene. This alteration results from a G to C substitution at nucleotide position 22, causing the glycine (G) at amino acid position 8 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