ENST00000390477.2:c.278-76C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000390477.2(TRDC):c.200A>T(p.Asn67Ile) variant causes a missense 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. 4/5 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000390477.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRDC | unassigned_transcript_2244 | c.200A>T | p.Asn67Ile | missense_variant | Exon 1 of 4 | |||
TRA | n.22463133A>T | intragenic_variant | ||||||
TRD | n.22463133A>T | intragenic_variant | ||||||
TRD-AS1 | NR_148361.1 | n.225+18108T>A | intron_variant | Intron 2 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRDC | ENST00000390477.2 | c.200A>T | p.Asn67Ile | missense_variant | Exon 1 of 4 | 6 | ENSP00000451468.1 | |||
TRD-AS1 | ENST00000556777.2 | n.708T>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 | |||||
TRD-AS1 | ENST00000514473.2 | n.225+18108T>A | intron_variant | Intron 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 27
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.