chr3-56557250-T-TGGGGTAAGCA
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001353153.1(CCDC66):c.-95_-92+6dupAGGGGTAAGC variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.813 in 1,546,866 control chromosomes in the GnomAD database, including 517,371 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001353153.1 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.763 AC: 114724AN: 150364Hom.: 44711 Cov.: 0
GnomAD4 exome AF: 0.818 AC: 1142155AN: 1396384Hom.: 472646 Cov.: 66 AF XY: 0.812 AC XY: 558958AN XY: 688646
GnomAD4 genome AF: 0.763 AC: 114785AN: 150482Hom.: 44725 Cov.: 0 AF XY: 0.758 AC XY: 55644AN XY: 73378
ClinVar
Submissions by phenotype
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 in 1000Genomes: 1498/2178=68.77% -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at