chr2-112918606-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_014439.4(IL37):c.454C>T(p.Arg152Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00118 in 1,613,374 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014439.4 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 |
---|---|---|---|---|---|---|---|
IL37 | NM_014439.4 | c.454C>T | p.Arg152Trp | missense_variant | 6/6 | ENST00000263326.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL37 | ENST00000263326.8 | c.454C>T | p.Arg152Trp | missense_variant | 6/6 | 1 | NM_014439.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00551 AC: 839AN: 152152Hom.: 5 Cov.: 31
GnomAD3 exomes AF: 0.00174 AC: 436AN: 251286Hom.: 5 AF XY: 0.00126 AC XY: 171AN XY: 135814
GnomAD4 exome AF: 0.000728 AC: 1064AN: 1461106Hom.: 10 Cov.: 31 AF XY: 0.000633 AC XY: 460AN XY: 726814
GnomAD4 genome ? AF: 0.00550 AC: 838AN: 152268Hom.: 5 Cov.: 31 AF XY: 0.00531 AC XY: 395AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 04, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at