rs350808
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000641144.1(ENSG00000291007):n.651+1352G>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 0.0223 in 150,568 control chromosomes in the GnomAD database, including 54 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
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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000641144.1 | n.651+1352G>A | intron_variant, non_coding_transcript_variant | |||||||
SSUH2 | ENST00000435138.5 | c.-633-7739C>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0223 AC: 3358AN: 150446Hom.: 53 Cov.: 31
GnomAD4 genome AF: 0.0223 AC: 3360AN: 150568Hom.: 54 Cov.: 31 AF XY: 0.0220 AC XY: 1619AN XY: 73560
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at