8-96785313-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016134.4(CPQ):āc.416T>Cā(p.Ile139Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000404 in 1,607,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ā ).
Frequency
Consequence
NM_016134.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.416T>C | p.Ile139Thr | missense_variant | Exon 2 of 8 | ENST00000220763.10 | NP_057218.1 | |
LOC124901985 | XR_007061019.1 | n.354+6229A>G | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000692 AC: 17AN: 245762Hom.: 0 AF XY: 0.0000902 AC XY: 12AN XY: 133082
GnomAD4 exome AF: 0.0000351 AC: 51AN: 1454844Hom.: 0 Cov.: 31 AF XY: 0.0000346 AC XY: 25AN XY: 723048
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.416T>C (p.I139T) alteration is located in exon 2 (coding exon 1) of the CPQ gene. This alteration results from a T to C substitution at nucleotide position 416, causing the isoleucine (I) at amino acid position 139 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at