2-217056046-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000695932.1(DIRC3-AS1):n.509+62028G>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 0.478 in 152,064 control chromosomes in the GnomAD database, including 18,526 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+62028G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIRC3-AS1 | ENST00000695932.1 | n.509+62028G>T | intron_variant, non_coding_transcript_variant | ||||||
DIRC3-AS1 | ENST00000695934.1 | n.172+62028G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.478 AC: 72615AN: 151946Hom.: 18501 Cov.: 33
GnomAD4 genome AF: 0.478 AC: 72681AN: 152064Hom.: 18526 Cov.: 33 AF XY: 0.479 AC XY: 35608AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at