14-100829464-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000429159.6(MEG3):n.650C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000525 in 152,334 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
ENST00000429159.6 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MEG3 | ENST00000429159.6 | n.650C>T | non_coding_transcript_exon_variant | 3/7 | 1 | |||||
MEG3 | ENST00000451743.6 | n.632C>T | non_coding_transcript_exon_variant | 3/7 | 1 | |||||
MEG3 | ENST00000521404.5 | n.632C>T | non_coding_transcript_exon_variant | 3/6 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152216Hom.: 0 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 30Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 14
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152334Hom.: 0 Cov.: 30 AF XY: 0.0000805 AC XY: 6AN XY: 74490
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at