chr8-48696059-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_105002.1(LOC101929268):n.420-499G>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 0.567 in 152,156 control chromosomes in the GnomAD database, including 28,668 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
Consequence
NR_105002.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC101929268 | NR_105002.1 | n.420-499G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000522575.1 | n.420-499G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000654201.1 | n.271G>A | non_coding_transcript_exon_variant | 4/5 | ||||||
ENST00000657307.1 | n.88-499G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.567 AC: 86260AN: 152038Hom.: 28675 Cov.: 33
GnomAD4 genome AF: 0.567 AC: 86272AN: 152156Hom.: 28668 Cov.: 33 AF XY: 0.574 AC XY: 42682AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at