3-180647255-TAA-TAAA
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_181426.2(CCDC39):c.1363-13dupT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.177 in 1,244,132 control chromosomes in the GnomAD database, including 4,949 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_181426.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.141 AC: 20333AN: 144448Hom.: 1557 Cov.: 29
GnomAD3 exomes AF: 0.228 AC: 17226AN: 75564Hom.: 292 AF XY: 0.231 AC XY: 9234AN XY: 39958
GnomAD4 exome AF: 0.182 AC: 199677AN: 1099620Hom.: 3391 Cov.: 24 AF XY: 0.180 AC XY: 97507AN XY: 541312
GnomAD4 genome AF: 0.141 AC: 20344AN: 144512Hom.: 1558 Cov.: 29 AF XY: 0.144 AC XY: 10090AN XY: 70110
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at