1-206768663-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000572.3(IL10):c.510C>A(p.Ala170Ala) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A170A) has been classified as Likely benign.
Frequency
Consequence
NM_000572.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL10 | NM_000572.3 | c.510C>A | p.Ala170Ala | synonymous_variant | Exon 5 of 5 | ENST00000423557.1 | NP_000563.1 | |
IL10 | NM_001382624.1 | c.255C>A | p.Ala85Ala | synonymous_variant | Exon 3 of 3 | NP_001369553.1 | ||
IL10 | NR_168466.1 | n.807C>A | non_coding_transcript_exon_variant | Exon 6 of 6 | ||||
IL10 | NR_168467.1 | n.337C>A | non_coding_transcript_exon_variant | Exon 3 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at