rs57918610
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006393.3(NEBL):c.259-10_259-8delTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000285 in 1,404,518 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006393.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000882 AC: 1AN: 113352Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000232 AC: 3AN: 1291166Hom.: 0 AF XY: 0.00000155 AC XY: 1AN XY: 646958
GnomAD4 genome AF: 0.00000882 AC: 1AN: 113352Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 54536
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at