rs3862227
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000461557.2(EBNA1BP2):n.108+6519T>C 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 0.341 in 152,042 control chromosomes in the GnomAD database, including 10,271 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
ENST00000461557.2 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EBNA1BP2 | ENST00000461557.2 | n.108+6519T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
EBNA1BP2 | ENST00000466927.5 | n.69+6519T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.342 AC: 51901AN: 151924Hom.: 10261 Cov.: 32
GnomAD4 genome AF: 0.341 AC: 51905AN: 152042Hom.: 10271 Cov.: 32 AF XY: 0.346 AC XY: 25700AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at