16-3067575-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001376923.1(IL32):āc.76T>Cā(p.Tyr26His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000026 in 1,613,870 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001376923.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL32 | NM_001376923.1 | c.76T>C | p.Tyr26His | missense_variant | Exon 4 of 7 | ENST00000525643.7 | NP_001363852.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251374Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135862
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461794Hom.: 0 Cov.: 33 AF XY: 0.0000248 AC XY: 18AN XY: 727200
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76T>C (p.Y26H) alteration is located in exon 5 (coding exon 3) of the IL32 gene. This alteration results from a T to C substitution at nucleotide position 76, causing the tyrosine (Y) at amino acid position 26 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