rs112097489
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004703.6(RABEP1):c.2371-4T>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0114 in 1,605,954 control chromosomes in the GnomAD database, including 106 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004703.6 splice_region, 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: 0.00850 AC: 1294AN: 152226Hom.: 11 Cov.: 33
GnomAD3 exomes AF: 0.00843 AC: 2032AN: 240972Hom.: 13 AF XY: 0.00838 AC XY: 1095AN XY: 130636
GnomAD4 exome AF: 0.0117 AC: 17008AN: 1453610Hom.: 95 Cov.: 29 AF XY: 0.0115 AC XY: 8279AN XY: 722692
GnomAD4 genome AF: 0.00849 AC: 1294AN: 152344Hom.: 11 Cov.: 33 AF XY: 0.00803 AC XY: 598AN XY: 74500
ClinVar
Submissions by phenotype
not provided Benign:3
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RABEP1: BP4, BS1, BS2 -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at