rs1880722
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654302.1(MIR3976HG):n.242-5859C>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.107 in 152,174 control chromosomes in the GnomAD database, including 1,942 homozygotes. 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
ENST00000654302.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR3976HG | ENST00000654302.1 | n.242-5859C>G | intron_variant, non_coding_transcript_variant | ||||||
MIR3976HG | ENST00000656406.1 | n.896+2694C>G | intron_variant, non_coding_transcript_variant | ||||||
MIR3976HG | ENST00000661123.1 | n.911-1062C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.107 AC: 16202AN: 152054Hom.: 1934 Cov.: 33
GnomAD4 genome ? AF: 0.107 AC: 16248AN: 152174Hom.: 1942 Cov.: 33 AF XY: 0.104 AC XY: 7758AN XY: 74396
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at