rs10518647
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000658435.1(ENSG00000251199):n.412-8810C>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 0.0346 in 151,876 control chromosomes in the GnomAD database, including 665 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PABPC4L | XR_001741133.2 | n.2015-8810C>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741134.2 | n.1693-8810C>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741135.2 | n.1693-8810C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000658435.1 | n.412-8810C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0346 AC: 5249AN: 151756Hom.: 662 Cov.: 32
GnomAD4 genome ? AF: 0.0346 AC: 5259AN: 151876Hom.: 665 Cov.: 32 AF XY: 0.0403 AC XY: 2994AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at