rs1867561
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000701062.1(SNHG16):n.194+24545G>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 0.0000103 in 1,062,938 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000701062.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNHG16 | ENST00000701062.1 | n.194+24545G>A | intron_variant, non_coding_transcript_variant | ||||||
ST6GALNAC2 | ENST00000585736.1 | c.-135C>T | 5_prime_UTR_variant, NMD_transcript_variant | 1/5 | 5 | ||||
ST6GALNAC2 | ENST00000588005.5 | n.88+926C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.0000110 AC: 10AN: 911002Hom.: 0 Cov.: 12 AF XY: 0.00000672 AC XY: 3AN XY: 446614
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at