rs1182986099
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000710359(DSP):c.-302C>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000121 in 412,046 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
ENST00000710359 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSP-AS1 | NR_183328.1 | n.119-561G>T | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183329.1 | n.159-561G>T | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183330.1 | n.626-561G>T | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183331.1 | n.39-561G>T | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000710359 | c.-302C>A | 5_prime_UTR_variant | Exon 1 of 24 | ENSP00000518230.1 | |||||
DSP-AS1 | ENST00000690863.2 | n.345-561G>T | intron_variant | Intron 1 of 1 | ||||||
DSP | ENST00000418664.2 | c.-302C>A | upstream_gene_variant | 1 | ENSP00000396591.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000115 AC: 3AN: 259878Hom.: 0 Cov.: 2 AF XY: 0.0000148 AC XY: 2AN XY: 134690
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at