chr6-123548606-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006073.4(TRDN):c.239C>A(p.Ser80Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000795 in 1,257,370 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S80F) has been classified as Likely benign.
Frequency
Consequence
NM_006073.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRDN | NM_006073.4 | c.239C>A | p.Ser80Tyr | missense_variant | 3/41 | ENST00000334268.9 | |
LOC105377982 | XR_001743833.2 | n.2346-4750G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRDN | ENST00000334268.9 | c.239C>A | p.Ser80Tyr | missense_variant | 3/41 | 1 | NM_006073.4 | A2 | |
ENST00000648704.1 | n.449-4816G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 143640Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 7.95e-7 AC: 1AN: 1257370Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 615930
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000696 AC: 1AN: 143640Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 69622
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at