rs2413775
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NR_120335.1(SLC28A2-AS1):n.181-18A>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 0.617 in 424,826 control chromosomes in the GnomAD database, including 83,943 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
NR_120335.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC28A2-AS1 | NR_120335.1 | n.181-18A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC28A2-AS1 | ENST00000663463.1 | n.56-9560A>T | intron_variant, non_coding_transcript_variant | ||||||
SLC28A2-AS1 | ENST00000560344.6 | n.1963A>T | non_coding_transcript_exon_variant | 4/4 | 5 | ||||
SLC28A2-AS1 | ENST00000559003.5 | n.244-18A>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.611 AC: 92865AN: 152058Hom.: 29246 Cov.: 33
GnomAD4 exome AF: 0.621 AC: 169201AN: 272650Hom.: 54687 Cov.: 0 AF XY: 0.620 AC XY: 97245AN XY: 156944
GnomAD4 genome ? AF: 0.610 AC: 92897AN: 152176Hom.: 29256 Cov.: 33 AF XY: 0.605 AC XY: 45044AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at