rs3940231
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000669726.3(ENSG00000288044):n.110+7847C>T 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 0.499 in 151,956 control chromosomes in the GnomAD database, including 20,669 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
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 |
---|---|---|---|---|---|---|---|
NOP9 | XM_005267385.2 | c.-1342+7847C>T | intron_variant | ||||
NOP9 | XM_047431052.1 | c.-1661+7847C>T | intron_variant | ||||
NOP9 | XM_047431053.1 | c.-1745+7847C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000669726.3 | n.110+7847C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.499 AC: 75710AN: 151838Hom.: 20634 Cov.: 32
GnomAD4 genome AF: 0.499 AC: 75799AN: 151956Hom.: 20669 Cov.: 32 AF XY: 0.502 AC XY: 37251AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at