rs2027338
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001750942.2(LOC102724945):n.401+8796G>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 0.568 in 152,042 control chromosomes in the GnomAD database, including 24,499 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
XR_001750942.2 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 |
---|---|---|---|---|---|---|---|
LOC102724945 | XR_001750942.2 | n.401+8796G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGLN3 | ENST00000487915.6 | c.-79-25055G>A | intron_variant | 5 | |||||
EGLN3 | ENST00000546681.5 | n.328+9572G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
EGLN3 | ENST00000548285.5 | n.449+8796G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
EGLN3 | ENST00000551935.5 | n.216-25055G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.568 AC: 86246AN: 151924Hom.: 24485 Cov.: 32
GnomAD4 genome AF: 0.568 AC: 86311AN: 152042Hom.: 24499 Cov.: 32 AF XY: 0.568 AC XY: 42223AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at