chr11-93733700-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_031639.1(MIR1304):n.65C>G 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 0.0000271 in 147,678 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
NR_031639.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MIR1304 | NR_031639.1 | n.65C>G | non_coding_transcript_exon_variant | 1/1 | |||
TAF1D | NR_146090.2 | n.1095-195C>G | intron_variant, non_coding_transcript_variant | ||||
TAF1D | NR_146091.2 | n.1095-303C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR1304 | ENST00000408243.1 | n.65C>G | mature_miRNA_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.0000271 AC: 4AN: 147678Hom.: 0 Cov.: 21
GnomAD3 exomes AF: 0.0000296 AC: 5AN: 168728Hom.: 0 AF XY: 0.0000217 AC XY: 2AN XY: 92042
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000241 AC: 7AN: 290778Hom.: 0 Cov.: 0 AF XY: 0.0000181 AC XY: 3AN XY: 165584
GnomAD4 genome AF: 0.0000271 AC: 4AN: 147678Hom.: 0 Cov.: 21 AF XY: 0.0000416 AC XY: 3AN XY: 72142
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at