rs1494978
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741133.2(PABPC4L):n.2164-15956C>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 0.357 in 151,818 control chromosomes in the GnomAD database, including 11,892 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_001741133.2 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 |
---|---|---|---|---|---|---|---|
PABPC4L | XR_001741133.2 | n.2164-15956C>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741134.2 | n.1842-15956C>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741135.2 | n.1842-15956C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000658435.1 | downstream_gene_variant | ||||||||
ENST00000658033.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes AF: 0.357 AC: 54145AN: 151700Hom.: 11871 Cov.: 32
GnomAD4 genome AF: 0.357 AC: 54213AN: 151818Hom.: 11892 Cov.: 32 AF XY: 0.362 AC XY: 26842AN XY: 74184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at