18-70086692-T-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP6
The NM_173630.4(RTTN):c.4303-8A>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. 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 Likely benign (no stars).
Frequency
Consequence
NM_173630.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000555 AC: 1AN: 18002Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.0000223 AC: 2AN: 89732Hom.: 0 AF XY: 0.0000192 AC XY: 1AN XY: 52150
GnomAD4 exome AF: 0.0000196 AC: 3AN: 152706Hom.: 0 Cov.: 0 AF XY: 0.0000237 AC XY: 2AN XY: 84258
GnomAD4 genome AF: 0.0000555 AC: 1AN: 18002Hom.: 0 Cov.: 0 AF XY: 0.000126 AC XY: 1AN XY: 7948
ClinVar
Submissions by phenotype
RTTN-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at