18-2890705-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032048.3(EMILIN2):c.578G>A(p.Arg193Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000501 in 1,614,114 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032048.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EMILIN2 | ENST00000254528.4 | c.578G>A | p.Arg193Gln | missense_variant | Exon 4 of 8 | 1 | NM_032048.3 | ENSP00000254528.3 | ||
LPIN2 | ENST00000697039.1 | c.2547-5271C>T | intron_variant | Intron 19 of 19 | ENSP00000513061.1 |
Frequencies
GnomAD3 genomes AF: 0.000348 AC: 53AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000342 AC: 86AN: 251372Hom.: 0 AF XY: 0.000287 AC XY: 39AN XY: 135880
GnomAD4 exome AF: 0.000516 AC: 755AN: 1461854Hom.: 0 Cov.: 30 AF XY: 0.000443 AC XY: 322AN XY: 727220
GnomAD4 genome AF: 0.000348 AC: 53AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.578G>A (p.R193Q) alteration is located in exon 4 (coding exon 4) of the EMILIN2 gene. This alteration results from a G to A substitution at nucleotide position 578, causing the arginine (R) at amino acid position 193 to be replaced by a glutamine (Q). 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