rs3980965
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000658435.1(ENSG00000251199):n.412-38063A>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 0.0000729 in 150,880 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 |
---|---|---|---|---|---|---|---|
PABPC4L | XR_001741133.2 | n.2014+24906A>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741134.2 | n.1692+24906A>T | intron_variant, non_coding_transcript_variant | ||||
PABPC4L | XR_001741135.2 | n.1692+24906A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000658435.1 | n.412-38063A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000729 AC: 11AN: 150880Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.0000729 AC: 11AN: 150880Hom.: 0 Cov.: 32 AF XY: 0.0000679 AC XY: 5AN XY: 73622
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at