rs17241253
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000675388.1(CCDC26):n.654-61248A>G 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 0.126 in 152,178 control chromosomes in the GnomAD database, including 1,501 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
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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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC26 | ENST00000675388.1 | n.654-61248A>G | intron_variant, non_coding_transcript_variant | ||||||
CCDC26 | ENST00000643616.1 | n.137-69773A>G | intron_variant, non_coding_transcript_variant | ||||||
CCDC26 | ENST00000676248.1 | n.101-63404A>G | intron_variant, non_coding_transcript_variant | ||||||
CCDC26 | ENST00000676407.1 | n.493-49848A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.126 AC: 19118AN: 152060Hom.: 1501 Cov.: 32
GnomAD4 genome AF: 0.126 AC: 19111AN: 152178Hom.: 1501 Cov.: 32 AF XY: 0.122 AC XY: 9039AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at