chr14-23321506-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM1BP4
The NM_004643.4(PABPN1):c.37G>C(p.Ala13Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000417 in 1,079,142 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A13D) has been classified as Uncertain significance.
Frequency
Consequence
NM_004643.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PABPN1 | NM_004643.4 | c.37G>C | p.Ala13Pro | missense_variant | 1/7 | ENST00000216727.9 | |
BCL2L2-PABPN1 | NM_001387343.1 | c.529-675G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PABPN1 | ENST00000216727.9 | c.37G>C | p.Ala13Pro | missense_variant | 1/7 | 1 | NM_004643.4 | P1 | |
PABPN1 | ENST00000397276.6 | c.37G>C | p.Ala13Pro | missense_variant | 1/6 | 1 | |||
PABPN1 | ENST00000556821.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000417 AC: 45AN: 1079142Hom.: 0 Cov.: 31 AF XY: 0.0000389 AC XY: 20AN XY: 513622
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Oculopharyngeal muscular dystrophy Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Feb 18, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at