chr1-111235708-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004000.3(CHI3L2):c.550G>A(p.Val184Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00129 in 1,614,208 control chromosomes in the GnomAD database, including 14 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_004000.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHI3L2 | NM_004000.3 | c.550G>A | p.Val184Ile | missense_variant | 6/11 | ENST00000369748.9 | |
CHI3L2 | NM_001025197.1 | c.520G>A | p.Val174Ile | missense_variant | 5/10 | ||
CHI3L2 | NM_001025199.2 | c.313G>A | p.Val105Ile | missense_variant | 5/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHI3L2 | ENST00000369748.9 | c.550G>A | p.Val184Ile | missense_variant | 6/11 | 1 | NM_004000.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00640 AC: 974AN: 152242Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.00192 AC: 482AN: 251360Hom.: 4 AF XY: 0.00136 AC XY: 185AN XY: 135846
GnomAD4 exome AF: 0.000763 AC: 1115AN: 1461848Hom.: 7 Cov.: 35 AF XY: 0.000652 AC XY: 474AN XY: 727222
GnomAD4 genome AF: 0.00640 AC: 975AN: 152360Hom.: 7 Cov.: 33 AF XY: 0.00621 AC XY: 463AN XY: 74514
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at