rs4981220
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001750942.2(LOC102724945):n.227-2996C>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 0.281 in 152,022 control chromosomes in the GnomAD database, including 6,190 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.227-2996C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGLN3 | ENST00000487915.6 | c.-79-37738C>T | intron_variant | 5 | |||||
EGLN3 | ENST00000464521.6 | n.178-2996C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
EGLN3 | ENST00000546681.5 | n.213-2996C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.280 AC: 42603AN: 151886Hom.: 6176 Cov.: 32
GnomAD4 exome AF: 0.500 AC: 9AN: 18Hom.: 1 AF XY: 0.583 AC XY: 7AN XY: 12
GnomAD4 genome ? AF: 0.281 AC: 42659AN: 152004Hom.: 6189 Cov.: 32 AF XY: 0.285 AC XY: 21154AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at