chr17-6998512-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000697.3(ALOX12):c.341G>A(p.Arg114His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000565 in 1,611,594 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts 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. R114C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000697.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALOX12 | NM_000697.3 | c.341G>A | p.Arg114His | missense_variant | 3/14 | ENST00000251535.11 | |
ALOX12-AS1 | NR_040089.1 | n.233+11284C>T | intron_variant, non_coding_transcript_variant | ||||
ALOX12 | XM_011523780.3 | c.341G>A | p.Arg114His | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALOX12 | ENST00000251535.11 | c.341G>A | p.Arg114His | missense_variant | 3/14 | 1 | NM_000697.3 | P1 | |
ALOX12-AS1 | ENST00000653385.1 | n.139+13684C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152148Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000841 AC: 21AN: 249716Hom.: 1 AF XY: 0.000118 AC XY: 16AN XY: 135070
GnomAD4 exome AF: 0.0000603 AC: 88AN: 1459446Hom.: 1 Cov.: 31 AF XY: 0.0000868 AC XY: 63AN XY: 725958
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152148Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.341G>A (p.R114H) alteration is located in exon 3 (coding exon 3) of the ALOX12 gene. This alteration results from a G to A substitution at nucleotide position 341, causing the arginine (R) at amino acid position 114 to be replaced by a histidine (H). 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