diff --git a/openapi.schema.yaml b/openapi.schema.yaml index e082f08a..132a81a6 100644 --- a/openapi.schema.yaml +++ b/openapi.schema.yaml @@ -7,7 +7,7 @@ info: email: manuel.holtgrewe@bih-charite.de license: name: MIT - version: 0.30.0 + version: 0.30.1 paths: /api/v1/genes/transcripts: get: @@ -218,6 +218,7 @@ components: - conservative_inframe_insertion - conservative_inframe_deletion - missense_variant + - rare_amino_acid_variant - splice_donor_5th_base_variant - splice_region_variant - splice_donor_region_variant diff --git a/src/annotate/seqvars/ann.rs b/src/annotate/seqvars/ann.rs index e50f0275..10947dc7 100644 --- a/src/annotate/seqvars/ann.rs +++ b/src/annotate/seqvars/ann.rs @@ -127,6 +127,10 @@ pub enum Consequence { /// SO:missense_variant, VEP:missense_variant MissenseVariant, + /// "A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid." + /// SO:rare_amino_acid_variant + RareAminoAcidVariant, + // Not used by mehari, but by VEP (we're usually more specific) // /// "A sequence_variant which is predicted to change the protein encoded in the coding sequence." // /// SO:protein_altering_variant, VEP:missense_variant @@ -261,6 +265,8 @@ pub enum Consequence { // /// "A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration." // /// SO:sequence_variant, VEP:sequence_variant // SequenceVariant, + /// "A transcript variant occurring within an intron." + /// SO:intron_variant, VEP:intron_variant IntronVariant, /// "A sequence variant where the structure of the gene is changed." @@ -287,7 +293,8 @@ impl From for PutativeImpact { | DisruptiveInframeDeletion | ConservativeInframeInsertion | ConservativeInframeDeletion - | MissenseVariant => PutativeImpact::Moderate, + | MissenseVariant + | RareAminoAcidVariant => PutativeImpact::Moderate, SpliceDonorFifthBaseVariant | SpliceRegionVariant | SpliceDonorRegionVariant diff --git a/src/annotate/seqvars/csq.rs b/src/annotate/seqvars/csq.rs index 6036d2b7..a905c38f 100644 --- a/src/annotate/seqvars/csq.rs +++ b/src/annotate/seqvars/csq.rs @@ -1089,6 +1089,13 @@ impl ConsequencePredictor { } } else { consequences |= Consequence::MissenseVariant; + // Missense variants that affect selenocysteine are marked + // as rare amino acid variants. + if alternative.contains("U") + || (loc.start == loc.end) && loc.start.aa == "U" + { + consequences |= Consequence::RareAminoAcidVariant; + } } } ProteinEdit::DelIns { alternative } => {