rs199422255
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The variant allele was found at a frequency of 0.0000301 in 597,500 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: 𝑓 0.00011 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000045 ( 0 hom. )
Consequence
Unknown
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.291
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
PP5
?
Variant 3-169765298-CAG-C is Pathogenic according to our data. Variant chr3-169765298-CAG-C is described in ClinVar as [Pathogenic]. Clinvar id is 39279.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152184Hom.: 0 Cov.: 32
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GnomAD4 exome AF: 0.00000449 AC: 2AN: 445198Hom.: 0 AF XY: 0.00000426 AC XY: 1AN XY: 234970
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GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74478
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ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Dyskeratosis congenita, autosomal dominant 1 Pathogenic:1
Pathogenic, no assertion criteria provided | curation | GeneReviews | May 10, 2012 | - - |
Computational scores
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Name
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at