8-96785045-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016134.4(CPQ):āc.148A>Gā(p.Ile50Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000494 in 1,613,774 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_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.148A>G | p.Ile50Val | missense_variant | Exon 2 of 8 | ENST00000220763.10 | NP_057218.1 | |
LOC124901985 | XR_007061019.1 | n.354+6497T>C | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000132 AC: 33AN: 250562Hom.: 0 AF XY: 0.000170 AC XY: 23AN XY: 135382
GnomAD4 exome AF: 0.000523 AC: 765AN: 1461602Hom.: 1 Cov.: 31 AF XY: 0.000473 AC XY: 344AN XY: 727110
GnomAD4 genome AF: 0.000210 AC: 32AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.148A>G (p.I50V) alteration is located in exon 2 (coding exon 1) of the CPQ gene. This alteration results from a A to G substitution at nucleotide position 148, causing the isoleucine (I) at amino acid position 50 to be replaced by a valine (V). 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