8-96785094-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016134.4(CPQ):c.197G>A(p.Arg66Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,613,642 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CPQ | NM_016134.4 | c.197G>A | p.Arg66Gln | missense_variant | Exon 2 of 8 | ENST00000220763.10 | NP_057218.1 | |
LOC124901985 | XR_007061019.1 | n.354+6448C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152086Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250538Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135370
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461556Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727080
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74262
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.197G>A (p.R66Q) alteration is located in exon 2 (coding exon 1) of the CPQ gene. This alteration results from a G to A substitution at nucleotide position 197, causing the arginine (R) at amino acid position 66 to be replaced by a glutamine (Q). 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