16-3067606-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001376923.1(IL32):c.107G>A(p.Arg36His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00389 in 1,610,386 control chromosomes in the GnomAD database, including 26 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R36C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001376923.1 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 |
---|---|---|---|---|---|---|---|
IL32 | NM_001376923.1 | c.107G>A | p.Arg36His | missense_variant | 4/7 | ENST00000525643.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL32 | ENST00000525643.7 | c.107G>A | p.Arg36His | missense_variant | 4/7 | 1 | NM_001376923.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00393 AC: 598AN: 152146Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00371 AC: 928AN: 250216Hom.: 2 AF XY: 0.00382 AC XY: 517AN XY: 135330
GnomAD4 exome AF: 0.00389 AC: 5672AN: 1458122Hom.: 20 Cov.: 31 AF XY: 0.00390 AC XY: 2829AN XY: 725620
GnomAD4 genome ? AF: 0.00393 AC: 598AN: 152264Hom.: 6 Cov.: 32 AF XY: 0.00400 AC XY: 298AN XY: 74462
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 31, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at