5-42838454-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000668084.2(ENSG00000286271):n.133+24535G>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 0.00147 in 152,164 control chromosomes in the GnomAD database, including 1 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC124900970 | XR_007058751.1 | n.463+417G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000668084.2 | n.133+24535G>C | intron_variant, non_coding_transcript_variant | |||||||
SELENOP | ENST00000514218.5 | c.-13-30088C>G | intron_variant | 5 | |||||
ENST00000651306.1 | n.377+21103G>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653383.1 | n.273+24535G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00147 AC: 223AN: 152046Hom.: 1 Cov.: 32
GnomAD4 genome ? AF: 0.00147 AC: 224AN: 152164Hom.: 1 Cov.: 32 AF XY: 0.00145 AC XY: 108AN XY: 74388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at