rs191284403
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001281503.2(SLITRK1):c.*689G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,972 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
NM_001281503.2 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLITRK1 | NM_001281503.2 | c.*689G>T | 3_prime_UTR_variant | 2/2 | ENST00000674365.1 | NP_001268432.1 | ||
SLITRK1 | NM_052910.2 | c.*689G>T | 3_prime_UTR_variant | 1/1 | NP_443142.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLITRK1 | ENST00000674365.1 | c.*689G>T | 3_prime_UTR_variant | 2/2 | NM_001281503.2 | ENSP00000501349.1 | ||||
SLITRK1 | ENST00000377084.3 | c.*689G>T | 3_prime_UTR_variant | 1/1 | 6 | ENSP00000366288.2 | ||||
ENSG00000285680 | ENST00000649183.1 | n.119C>A | non_coding_transcript_exon_variant | 2/5 | ||||||
ENSG00000285680 | ENST00000667130.1 | n.122C>A | non_coding_transcript_exon_variant | 2/4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151972Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 0
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151972Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74212
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at