rs1519847
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000675388.1(CCDC26):n.654-86820G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.45 in 151,982 control chromosomes in the GnomAD database, including 17,267 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000675388.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC26 | ENST00000675388.1 | n.654-86820G>A | intron_variant, non_coding_transcript_variant | |||||||
CCDC26 | ENST00000643616.1 | n.136+61016G>A | intron_variant, non_coding_transcript_variant | |||||||
CCDC26 | ENST00000676248.1 | n.101-88976G>A | intron_variant, non_coding_transcript_variant | |||||||
CCDC26 | ENST00000676407.1 | n.493-75420G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.450 AC: 68329AN: 151864Hom.: 17240 Cov.: 32
GnomAD4 genome AF: 0.450 AC: 68404AN: 151982Hom.: 17267 Cov.: 32 AF XY: 0.442 AC XY: 32821AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at