14-23321495-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM1BP4BP6
The NM_004643.4(PABPN1):c.26C>T(p.Ala9Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000495 in 1,212,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_004643.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PABPN1 | ENST00000216727.9 | c.26C>T | p.Ala9Val | missense_variant | Exon 1 of 7 | 1 | NM_004643.4 | ENSP00000216727.4 | ||
BCL2L2-PABPN1 | ENST00000678502.1 | c.529-686C>T | intron_variant | Intron 4 of 9 | ENSP00000503309.1 |
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150932Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000471 AC: 5AN: 1061850Hom.: 0 Cov.: 31 AF XY: 0.00000793 AC XY: 4AN XY: 504358
GnomAD4 genome AF: 0.00000663 AC: 1AN: 150932Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73704
ClinVar
Submissions by phenotype
Oculopharyngeal muscular dystrophy Uncertain:1
- -
not provided Benign:1
PABPN1: BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at