1-206768735-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000572.3(IL10):c.445-7T>G 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_000572.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL10 | NM_000572.3 | c.445-7T>G | splice_region_variant, intron_variant | Intron 4 of 4 | ENST00000423557.1 | NP_000563.1 | ||
IL10 | NM_001382624.1 | c.190-7T>G | splice_region_variant, intron_variant | Intron 2 of 2 | NP_001369553.1 | |||
IL10 | NR_168466.1 | n.742-7T>G | splice_region_variant, intron_variant | Intron 5 of 5 | ||||
IL10 | NR_168467.1 | n.272-7T>G | splice_region_variant, intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 24
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inflammatory bowel disease 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.