18-2890725-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032048.3(EMILIN2):āc.598G>Cā(p.Asp200His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,834 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032048.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EMILIN2 | ENST00000254528.4 | c.598G>C | p.Asp200His | missense_variant | Exon 4 of 8 | 1 | NM_032048.3 | ENSP00000254528.3 | ||
LPIN2 | ENST00000697039.1 | c.2547-5291C>G | intron_variant | Intron 19 of 19 | ENSP00000513061.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461834Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727202
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.598G>C (p.D200H) alteration is located in exon 4 (coding exon 4) of the EMILIN2 gene. This alteration results from a G to C substitution at nucleotide position 598, causing the aspartic acid (D) at amino acid position 200 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