chr17-6998520-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000697.3(ALOX12):āc.349G>Cā(p.Gly117Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000273 in 1,613,590 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_000697.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALOX12 | NM_000697.3 | c.349G>C | p.Gly117Arg | missense_variant | 3/14 | ENST00000251535.11 | |
ALOX12-AS1 | NR_040089.1 | n.233+11276C>G | intron_variant, non_coding_transcript_variant | ||||
ALOX12 | XM_011523780.3 | c.349G>C | p.Gly117Arg | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALOX12 | ENST00000251535.11 | c.349G>C | p.Gly117Arg | missense_variant | 3/14 | 1 | NM_000697.3 | P1 | |
ALOX12-AS1 | ENST00000653385.1 | n.139+13676C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00118 AC: 179AN: 152188Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000399 AC: 100AN: 250528Hom.: 0 AF XY: 0.000347 AC XY: 47AN XY: 135548
GnomAD4 exome AF: 0.000177 AC: 259AN: 1461284Hom.: 2 Cov.: 31 AF XY: 0.000155 AC XY: 113AN XY: 726870
GnomAD4 genome AF: 0.00119 AC: 181AN: 152306Hom.: 1 Cov.: 31 AF XY: 0.00101 AC XY: 75AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2022 | ALOX12: BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at