22-49997075-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_001371417.1(IL17REL):c.1258-1G>A variant causes a splice acceptor, 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 predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001371417.1 splice_acceptor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL17REL | NM_001371417.1 | c.1258-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | ENST00000695950.1 | NP_001358346.1 | ||
IL17REL | NM_001371416.1 | c.1191-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | NP_001358345.1 | |||
IL17REL | NM_001001694.3 | c.975-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | NP_001001694.2 | |||
IL17REL | XR_001755245.2 | n.1377-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL17REL | ENST00000695950.1 | c.1258-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | NM_001371417.1 | ENSP00000512282.1 | ||||
IL17REL | ENST00000695951.1 | c.1191-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | ENSP00000512283.1 | |||||
IL17REL | ENST00000389983.7 | n.*1110-1G>A | splice_acceptor_variant, intron_variant | Intron 13 of 14 | 2 | ENSP00000374633.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1418076Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 703038
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
IL17REL: PM2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.