NM_001141947.3:c.11+7_11+16delAGGGGTAAGC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001141947.3(CCDC66):c.11+7_11+16delAGGGGTAAGC variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000129 in 1,546,964 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000013 ( 0 hom. )
Consequence
CCDC66
NM_001141947.3 splice_region, intron
NM_001141947.3 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.42
Genes affected
CCDC66 (HGNC:27709): (coiled-coil domain containing 66) Enables microtubule binding activity. Involved in cilium assembly; microtubule bundle formation; and regulation of protein localization to cilium. Located in several cellular components, including Flemming body; microtubule cytoskeleton; and photoreceptor inner segment. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150448Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000129 AC: 18AN: 1396516Hom.: 0 AF XY: 0.0000145 AC XY: 10AN XY: 688726
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GnomAD4 genome AF: 0.0000133 AC: 2AN: 150448Hom.: 0 Cov.: 0 AF XY: 0.0000136 AC XY: 1AN XY: 73292
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at