chr2-112917153-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014439.4(IL37):āc.170C>Gā(p.Pro57Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000973 in 1,613,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014439.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL37 | NM_014439.4 | c.170C>G | p.Pro57Arg | missense_variant | 4/6 | ENST00000263326.8 | NP_055254.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL37 | ENST00000263326.8 | c.170C>G | p.Pro57Arg | missense_variant | 4/6 | 1 | NM_014439.4 | ENSP00000263326 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251298Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135806
GnomAD4 exome AF: 0.0000917 AC: 134AN: 1461694Hom.: 0 Cov.: 31 AF XY: 0.0000963 AC XY: 70AN XY: 727166
GnomAD4 genome AF: 0.000151 AC: 23AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 02, 2022 | The c.170C>G (p.P57R) alteration is located in exon 3 (coding exon 3) of the IL37 gene. This alteration results from a C to G substitution at nucleotide position 170, causing the proline (P) at amino acid position 57 to be replaced by an arginine (R). 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