rs766356032
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_138803.4(CCDC148):c.1478T>G(p.Leu493Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000186 in 1,612,176 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138803.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCDC148 | NM_138803.4 | c.1478T>G | p.Leu493Arg | missense_variant | Exon 12 of 14 | ENST00000283233.10 | NP_620158.3 | |
CCDC148 | NM_001301684.2 | c.1040T>G | p.Leu347Arg | missense_variant | Exon 10 of 12 | NP_001288613.1 | ||
CCDC148-AS1 | NR_038850.1 | n.221+777A>C | intron_variant | Intron 3 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250102Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135148
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1460064Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 726358
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1478T>G (p.L493R) alteration is located in exon 12 (coding exon 12) of the CCDC148 gene. This alteration results from a T to G substitution at nucleotide position 1478, causing the leucine (L) at amino acid position 493 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