chr15-82555939-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365242.1(CPEB1):c.871G>A(p.Asp291Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,400 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_001365242.1 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 |
---|---|---|---|---|---|---|---|---|
CPEB1 | NM_001365242.1 | c.871G>A | p.Asp291Asn | missense_variant | Exon 6 of 13 | ENST00000684509.1 | NP_001352171.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CPEB1 | ENST00000684509.1 | c.871G>A | p.Asp291Asn | missense_variant | Exon 6 of 13 | NM_001365242.1 | ENSP00000507835.1 | |||
ENSG00000260836 | ENST00000562833.2 | c.565G>A | p.Asp189Asn | missense_variant | Exon 3 of 13 | 3 | ENSP00000454786.2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000805 AC: 2AN: 248574Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134886
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461324Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726940
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.790G>A (p.D264N) alteration is located in exon 5 (coding exon 5) of the CPEB1 gene. This alteration results from a G to A substitution at nucleotide position 790, causing the aspartic acid (D) at amino acid position 264 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