rs17110679
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000692099.1(ENSG00000289465):n.320+26511A>T 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 0.0251 in 151,418 control chromosomes in the GnomAD database, including 256 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
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000692099.1 | n.320+26511A>T | intron_variant, non_coding_transcript_variant | |||||||
RDX | ENST00000645527.1 | c.*757+62716A>T | intron_variant, NMD_transcript_variant | ||||||
ENST00000693667.1 | n.332-24694A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0249 AC: 3768AN: 151300Hom.: 244 Cov.: 31
GnomAD4 genome ? AF: 0.0251 AC: 3799AN: 151418Hom.: 256 Cov.: 31 AF XY: 0.0278 AC XY: 2053AN XY: 73926
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at