16-12704818-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018340.3(CPPED1):c.521G>A(p.Cys174Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000105 in 1,614,074 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_018340.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CPPED1 | ENST00000381774.9 | c.521G>A | p.Cys174Tyr | missense_variant | Exon 3 of 4 | 1 | NM_018340.3 | ENSP00000371193.4 | ||
CPPED1 | ENST00000433677.6 | c.290-39703G>A | intron_variant | Intron 2 of 2 | 1 | ENSP00000411127.2 | ||||
CPPED1 | ENST00000261660.4 | c.290-39798G>A | intron_variant | Intron 2 of 2 | 2 | ENSP00000261660.4 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000923 AC: 23AN: 249302Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135300
GnomAD4 exome AF: 0.000106 AC: 155AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.0000853 AC XY: 62AN XY: 727246
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521G>A (p.C174Y) alteration is located in exon 3 (coding exon 3) of the CPPED1 gene. This alteration results from a G to A substitution at nucleotide position 521, causing the cysteine (C) at amino acid position 174 to be replaced by a tyrosine (Y). 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