rs13338289
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657379.1(ENSG00000245768):n.650+88539G>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 0.216 in 152,094 control chromosomes in the GnomAD database, including 5,187 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107984867 | XR_001752227.2 | n.648-17318G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657379.1 | n.650+88539G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000500117.1 | n.679+88539G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000565722.1 | n.438-17318G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000568134.6 | n.439-17318G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.216 AC: 32854AN: 151976Hom.: 5158 Cov.: 32
GnomAD4 genome ? AF: 0.216 AC: 32924AN: 152094Hom.: 5187 Cov.: 32 AF XY: 0.210 AC XY: 15642AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at