chr16-80604518-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_152342.4(CDYL2):c.1391G>A(p.Arg464Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152342.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CDYL2 | NM_152342.4 | c.1391G>A | p.Arg464Gln | missense_variant | Exon 7 of 7 | ENST00000570137.7 | NP_689555.2 | |
CDYL2 | XM_011522866.2 | c.1493G>A | p.Arg498Gln | missense_variant | Exon 7 of 7 | XP_011521168.1 | ||
CDYL2 | XM_011522867.3 | c.1382G>A | p.Arg461Gln | missense_variant | Exon 7 of 7 | XP_011521169.1 | ||
CDYL2 | XM_024450151.2 | c.1214G>A | p.Arg405Gln | missense_variant | Exon 7 of 7 | XP_024305919.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDYL2 | ENST00000570137.7 | c.1391G>A | p.Arg464Gln | missense_variant | Exon 7 of 7 | 1 | NM_152342.4 | ENSP00000476295.1 | ||
CDYL2 | ENST00000562812.5 | c.1394G>A | p.Arg465Gln | missense_variant | Exon 8 of 8 | 5 | ENSP00000454546.1 | |||
CDYL2 | ENST00000563890.5 | c.1394G>A | p.Arg465Gln | missense_variant | Exon 8 of 8 | 5 | ENSP00000455111.1 | |||
CDYL2 | ENST00000566173.3 | c.1394G>A | p.Arg465Gln | missense_variant | Exon 8 of 8 | 5 | ENSP00000456934.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251332Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135870
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1391G>A (p.R464Q) alteration is located in exon 7 (coding exon 7) of the CDYL2 gene. This alteration results from a G to A substitution at nucleotide position 1391, causing the arginine (R) at amino acid position 464 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