rs2917667
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000575838.1(NQO1-DT):n.163+2700A>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 0.866 in 152,138 control chromosomes in the GnomAD database, including 57,307 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
ENST00000575838.1 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 |
---|---|---|---|---|---|---|---|
NQO1-DT | XR_007065098.1 | n.162-1544A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NQO1-DT | ENST00000575838.1 | n.163+2700A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
NQO1-DT | ENST00000690354.1 | n.409-1544A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.866 AC: 131707AN: 152020Hom.: 57264 Cov.: 32
GnomAD4 genome ? AF: 0.866 AC: 131803AN: 152138Hom.: 57307 Cov.: 32 AF XY: 0.863 AC XY: 64199AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at