chr13-30752074-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001629.4(ALOX5AP):c.193C>T(p.Pro65Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001629.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALOX5AP | NM_001629.4 | c.193C>T | p.Pro65Ser | missense_variant | Exon 3 of 5 | ENST00000380490.5 | NP_001620.2 | |
ALOX5AP | NM_001204406.2 | c.364C>T | p.Pro122Ser | missense_variant | Exon 4 of 6 | NP_001191335.1 | ||
ALOX5AP | XM_017020522.3 | c.73C>T | p.Pro25Ser | missense_variant | Exon 3 of 5 | XP_016876011.1 | ||
LOC124903146 | XR_007063743.1 | n.89+3437G>A | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALOX5AP | ENST00000380490.5 | c.193C>T | p.Pro65Ser | missense_variant | Exon 3 of 5 | 1 | NM_001629.4 | ENSP00000369858.3 | ||
ALOX5AP | ENST00000617770.4 | c.364C>T | p.Pro122Ser | missense_variant | Exon 4 of 6 | 1 | ENSP00000479870.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.364C>T (p.P122S) alteration is located in exon 4 (coding exon 4) of the ALOX5AP gene. This alteration results from a C to T substitution at nucleotide position 364, causing the proline (P) at amino acid position 122 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.