8-96835008-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016134.4(CPQ):c.469G>A(p.Asp157Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000353 in 1,613,286 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016134.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CPQ | NM_016134.4 | c.469G>A | p.Asp157Asn | missense_variant | Exon 3 of 8 | ENST00000220763.10 | NP_057218.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250278Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135266
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461138Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 726900
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152148Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.469G>A (p.D157N) alteration is located in exon 3 (coding exon 2) of the CPQ gene. This alteration results from a G to A substitution at nucleotide position 469, causing the aspartic acid (D) at amino acid position 157 to be replaced by an asparagine (N). 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