rs4557499
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000444820.2(EEF1B2P5):n.447+62G>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 0.465 in 151,716 control chromosomes in the GnomAD database, including 18,203 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
ENST00000444820.2 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 |
---|---|---|---|---|---|---|---|
LGSN | XM_047418866.1 | c.-963-36884C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EEF1B2P5 | ENST00000444820.2 | n.447+62G>T | intron_variant, non_coding_transcript_variant | ||||||
ENST00000701584.1 | n.134-36884C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.465 AC: 70479AN: 151528Hom.: 18197 Cov.: 30
GnomAD4 exome AF: 0.671 AC: 47AN: 70Hom.: 15 AF XY: 0.667 AC XY: 32AN XY: 48
GnomAD4 genome AF: 0.465 AC: 70474AN: 151646Hom.: 18188 Cov.: 30 AF XY: 0.469 AC XY: 34722AN XY: 74094
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at