chr14-80211923-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000553968.1(DIO2):c.-143G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000599 in 150,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000553968.1 5_prime_UTR
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DIO2-AS1 | NR_038355.1 | n.70+435C>G | intron_variant, non_coding_transcript_variant | ||||
DIO2 | NM_001324462.2 | c.-143G>C | 5_prime_UTR_variant | 1/3 | |||
DIO2 | NM_000793.6 | c.-53-398G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIO2-AS1 | ENST00000553979.1 | n.70+435C>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000600 AC: 9AN: 150024Hom.: 0 Cov.: 25
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 112Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 58
GnomAD4 genome ? AF: 0.0000599 AC: 9AN: 150130Hom.: 0 Cov.: 25 AF XY: 0.0000818 AC XY: 6AN XY: 73316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at