18-59480160-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_133459.4(CCBE1):c.265+26C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.27 in 1,413,438 control chromosomes in the GnomAD database, including 53,500 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_133459.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.281 AC: 42627AN: 151966Hom.: 6017 Cov.: 33
GnomAD3 exomes AF: 0.266 AC: 65452AN: 246022Hom.: 8876 AF XY: 0.262 AC XY: 34895AN XY: 133184
GnomAD4 exome AF: 0.268 AC: 338373AN: 1261354Hom.: 47482 Cov.: 18 AF XY: 0.267 AC XY: 170639AN XY: 638258
GnomAD4 genome AF: 0.280 AC: 42652AN: 152084Hom.: 6018 Cov.: 33 AF XY: 0.276 AC XY: 20552AN XY: 74356
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is classified as Benign based on local population frequency. This variant was detected in 51% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported. -
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at