18-2890698-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032048.3(EMILIN2):c.571G>T(p.Val191Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,614,032 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
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.571G>T | p.Val191Phe | missense_variant | Exon 4 of 8 | 1 | NM_032048.3 | ENSP00000254528.3 | ||
LPIN2 | ENST00000697039.1 | c.2547-5264C>A | intron_variant | Intron 19 of 19 | ENSP00000513061.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251388Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135880
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461874Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727240
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571G>T (p.V191F) alteration is located in exon 4 (coding exon 4) of the EMILIN2 gene. This alteration results from a G to T substitution at nucleotide position 571, causing the valine (V) at amino acid position 191 to be replaced by a phenylalanine (F). 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