20-63688131-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001283009.2(RTEL1):c.1596-8G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_001283009.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RTEL1 | ENST00000360203.11 | c.1596-8G>T | splice_region_variant, intron_variant | Intron 18 of 34 | 5 | NM_001283009.2 | ENSP00000353332.5 | |||
RTEL1 | ENST00000508582.7 | c.1668-8G>T | splice_region_variant, intron_variant | Intron 18 of 34 | 2 | ENSP00000424307.2 | ||||
RTEL1 | ENST00000370018.7 | c.1596-8G>T | splice_region_variant, intron_variant | Intron 18 of 34 | 1 | ENSP00000359035.3 | ||||
RTEL1-TNFRSF6B | ENST00000492259.6 | n.1680-8G>T | splice_region_variant, intron_variant | Intron 16 of 34 | 5 | ENSP00000457428.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 46
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Dyskeratosis congenita, autosomal recessive 5;C4225346:Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.