rs4408325
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655771.2(CCDC15-DT):n.564-129A>T 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 0.709 in 152,000 control chromosomes in the GnomAD database, including 39,207 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
ENST00000655771.2 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 |
---|---|---|---|---|---|---|---|
CCDC15-DT | XR_948134.3 | n.511-129A>T | intron_variant, non_coding_transcript_variant | ||||
CCDC15-DT | XR_948132.3 | n.511-129A>T | intron_variant, non_coding_transcript_variant | ||||
CCDC15-DT | XR_948133.3 | n.511-129A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC15-DT | ENST00000655771.2 | n.564-129A>T | intron_variant, non_coding_transcript_variant | ||||||
CCDC15-DT | ENST00000649496.1 | n.75-129A>T | intron_variant, non_coding_transcript_variant | ||||||
CCDC15-DT | ENST00000667169.1 | n.48-129A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.709 AC: 107713AN: 151882Hom.: 39156 Cov.: 30
GnomAD4 genome ? AF: 0.709 AC: 107825AN: 152000Hom.: 39207 Cov.: 30 AF XY: 0.713 AC XY: 52997AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at