rs13228694
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_036570.1(STAG3L5P-PVRIG2P-PILRB):n.477-3181C>G 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 0.0000592 in 152,106 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
NR_036570.1 intron, non_coding_transcript
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STAG3L5P-PVRIG2P-PILRB | NR_036570.1 | n.477-3181C>G | intron_variant, non_coding_transcript_variant | |||||
STAG3L5P-PVRIG2P-PILRB | NR_036569.1 | n.477-3181C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STAG3L5P | ENST00000473757.5 | n.346-3181C>G | intron_variant, non_coding_transcript_variant | 1 | ||||||
STAG3L5P | ENST00000488972.6 | n.425-3181C>G | intron_variant, non_coding_transcript_variant | 4 | ||||||
STAG3L5P | ENST00000493499.1 | n.206-3181C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152106Hom.: 0 Cov.: 31
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152106Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at