chr10-133380344-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152911.4(PAOX):c.527C>T(p.Thr176Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,612,790 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152911.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAOX | ENST00000278060.10 | c.527C>T | p.Thr176Ile | missense_variant | Exon 2 of 7 | 1 | NM_152911.4 | ENSP00000278060.5 | ||
ENSG00000254536 | ENST00000468317.3 | n.140C>T | non_coding_transcript_exon_variant | Exon 1 of 16 | 5 | ENSP00000436767.2 | ||||
ENSG00000254536 | ENST00000670407.1 | n.140C>T | non_coding_transcript_exon_variant | Exon 1 of 7 | ENSP00000499264.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249536Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135614
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1460558Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 726570
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.527C>T (p.T176I) alteration is located in exon 2 (coding exon 2) of the PAOX gene. This alteration results from a C to T substitution at nucleotide position 527, causing the threonine (T) at amino acid position 176 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at