rs11774682
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000521252.1(ENSG00000253961):n.114G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0263 in 152,208 control chromosomes in the GnomAD database, including 73 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000521252.1 | n.114G>A | non_coding_transcript_exon_variant | 1/2 | 5 | |||||
ENST00000523365.1 | n.321G>A | non_coding_transcript_exon_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0263 AC: 4003AN: 152072Hom.: 72 Cov.: 32
GnomAD4 exome AF: 0.111 AC: 2AN: 18Hom.: 1 Cov.: 0 AF XY: 0.125 AC XY: 2AN XY: 16
GnomAD4 genome ? AF: 0.0263 AC: 3999AN: 152190Hom.: 72 Cov.: 32 AF XY: 0.0246 AC XY: 1831AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at