rs9525916
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NR_104065.1(SMIM2-AS1):n.65-14824T>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 0.419 in 151,970 control chromosomes in the GnomAD database, including 16,208 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_104065.1 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 |
---|---|---|---|---|---|---|---|
SMIM2-AS1 | NR_104065.1 | n.65-14824T>A | intron_variant, non_coding_transcript_variant | ||||
LINC00390 | NR_132368.1 | n.326+8370A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMIM2-AS1 | ENST00000618753.4 | n.163-18049T>A | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC00390 | ENST00000662947.1 | n.326+8370A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.420 AC: 63711AN: 151852Hom.: 16210 Cov.: 31
GnomAD4 genome ? AF: 0.419 AC: 63692AN: 151970Hom.: 16208 Cov.: 31 AF XY: 0.416 AC XY: 30909AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at