18-2890820-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032048.3(EMILIN2):āc.693G>Cā(p.Gln231His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,364 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032048.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EMILIN2 | ENST00000254528.4 | c.693G>C | p.Gln231His | missense_variant | Exon 4 of 8 | 1 | NM_032048.3 | ENSP00000254528.3 | ||
LPIN2 | ENST00000697039.1 | c.2547-5386C>G | intron_variant | Intron 19 of 19 | ENSP00000513061.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249724Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135238
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461364Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726898
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at