18-2890735-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032048.3(EMILIN2):c.608C>T(p.Ser203Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000253 in 1,461,812 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.608C>T | p.Ser203Phe | missense_variant | Exon 4 of 8 | 1 | NM_032048.3 | ENSP00000254528.3 | ||
LPIN2 | ENST00000697039.1 | c.2547-5301G>A | intron_variant | Intron 19 of 19 | ENSP00000513061.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251332Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135862
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461812Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727192
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608C>T (p.S203F) alteration is located in exon 4 (coding exon 4) of the EMILIN2 gene. This alteration results from a C to T substitution at nucleotide position 608, causing the serine (S) at amino acid position 203 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