17-4631733-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001140.5(ALOX15):āc.1856C>Gā(p.Pro619Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,614,058 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001140.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
ALOX15 | ENST00000293761.8 | c.1856C>G | p.Pro619Arg | missense_variant | Exon 14 of 14 | 1 | NM_001140.5 | ENSP00000293761.3 | ||
ALOX15 | ENST00000570836.6 | c.1856C>G | p.Pro619Arg | missense_variant | Exon 15 of 15 | 2 | ENSP00000458832.1 | |||
ALOX15 | ENST00000574640.1 | c.1739C>G | p.Pro580Arg | missense_variant | Exon 14 of 14 | 2 | ENSP00000460483.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250810Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135608
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461860Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727234
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1856C>G (p.P619R) alteration is located in exon 14 (coding exon 14) of the ALOX15 gene. This alteration results from a C to G substitution at nucleotide position 1856, causing the proline (P) at amino acid position 619 to be replaced by an arginine (R). 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