rs9358799
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000562221.1(ENSG00000282804):c.*6+1G>T variant causes a splice donor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000727 in 1,375,866 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000562221.1 splice_donor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RIPOR2 | NM_001286445.3 | c.*7G>T | 3_prime_UTR_variant | Exon 22 of 22 | ENST00000643898.2 | NP_001273374.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RIPOR2 | ENST00000643898 | c.*7G>T | 3_prime_UTR_variant | Exon 22 of 22 | NM_001286445.3 | ENSP00000494268.2 | ||||
ENSG00000282804 | ENST00000562221.1 | c.*6+1G>T | splice_donor_variant, intron_variant | Intron 2 of 2 | 5 | ENSP00000455145.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.27e-7 AC: 1AN: 1375866Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 679908
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.