16-3067576-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001376923.1(IL32):c.77A>G(p.Tyr26Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00167 in 1,613,838 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y26H) 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 -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL32 | NM_001376923.1 | c.77A>G | p.Tyr26Cys | missense_variant | 4/7 | ENST00000525643.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL32 | ENST00000525643.7 | c.77A>G | p.Tyr26Cys | missense_variant | 4/7 | 1 | NM_001376923.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00639 AC: 971AN: 152058Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00251 AC: 630AN: 251278Hom.: 6 AF XY: 0.00246 AC XY: 334AN XY: 135814
GnomAD4 exome AF: 0.00118 AC: 1719AN: 1461662Hom.: 9 Cov.: 33 AF XY: 0.00131 AC XY: 952AN XY: 727130
GnomAD4 genome ? AF: 0.00643 AC: 978AN: 152176Hom.: 9 Cov.: 32 AF XY: 0.00610 AC XY: 454AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at