11-117986488-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001558.4(IL10RA):c.21G>A(p.Val7Val) variant causes a synonymous 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. V7V) has been classified as Benign.
Frequency
Consequence
NM_001558.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL10RA | NM_001558.4 | c.21G>A | p.Val7Val | synonymous_variant | Exon 1 of 7 | ENST00000227752.8 | NP_001549.2 | |
IL10RA | XM_047426882.1 | c.-319G>A | 5_prime_UTR_variant | Exon 1 of 7 | XP_047282838.1 | |||
IL10RA | NR_026691.2 | n.95G>A | non_coding_transcript_exon_variant | Exon 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1403872Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 693046
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inflammatory bowel disease 28 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.