rs6721996
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000695932.1(DIRC3-AS1):n.509+50722G>A 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 0.492 in 151,964 control chromosomes in the GnomAD database, including 19,190 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
ENST00000695932.1 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 |
---|---|---|---|---|---|---|---|
IGFBP-AS1 | XR_001739169.1 | n.11844+50722G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIRC3-AS1 | ENST00000695932.1 | n.509+50722G>A | intron_variant, non_coding_transcript_variant | ||||||
DIRC3-AS1 | ENST00000695934.1 | n.172+50722G>A | intron_variant, non_coding_transcript_variant | ||||||
DIRC3-AS1 | ENST00000695937.1 | n.289+7460G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.492 AC: 74648AN: 151844Hom.: 19166 Cov.: 33
GnomAD4 genome ? AF: 0.492 AC: 74714AN: 151964Hom.: 19190 Cov.: 33 AF XY: 0.493 AC XY: 36633AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at