chr10-45395902-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000698.5(ALOX5):c.397C>T(p.Arg133Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000202 in 1,614,200 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R133H) has been classified as Uncertain significance.
Frequency
Consequence
NM_000698.5 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 |
---|---|---|---|---|---|---|---|
ALOX5 | NM_000698.5 | c.397C>T | p.Arg133Cys | missense_variant | 3/14 | ENST00000374391.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALOX5 | ENST00000374391.7 | c.397C>T | p.Arg133Cys | missense_variant | 3/14 | 1 | NM_000698.5 | P1 | |
ALOX5 | ENST00000542434.5 | c.397C>T | p.Arg133Cys | missense_variant | 3/13 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000485 AC: 122AN: 251474Hom.: 1 AF XY: 0.000625 AC XY: 85AN XY: 135914
GnomAD4 exome AF: 0.000214 AC: 313AN: 1461882Hom.: 2 Cov.: 31 AF XY: 0.000292 AC XY: 212AN XY: 727244
GnomAD4 genome ? AF: 0.0000853 AC: 13AN: 152318Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 03, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at