rs6566811
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000580672.5(CNDP2):c.76G>A(p.Gly26Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.408 in 152,208 control chromosomes in the GnomAD database, including 13,041 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/11 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000580672.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNDP2 | NM_018235.3 | upstream_gene_variant | ENST00000324262.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNDP2 | ENST00000324262.9 | upstream_gene_variant | 1 | NM_018235.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.408 AC: 62065AN: 151934Hom.: 13016 Cov.: 33
GnomAD3 exomes AF: 0.477 AC: 453AN: 950Hom.: 119 AF XY: 0.500 AC XY: 208AN XY: 416
GnomAD4 exome AF: 0.404 AC: 63AN: 156Hom.: 15 Cov.: 0 AF XY: 0.392 AC XY: 47AN XY: 120
GnomAD4 genome ? AF: 0.408 AC: 62098AN: 152052Hom.: 13026 Cov.: 33 AF XY: 0.409 AC XY: 30422AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at