chr18-2847295-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032048.3(EMILIN2):c.107A>T(p.Tyr36Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000465 in 1,312,488 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EMILIN2 | NM_032048.3 | c.107A>T | p.Tyr36Phe | missense_variant | 1/8 | ENST00000254528.4 | NP_114437.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EMILIN2 | ENST00000254528.4 | c.107A>T | p.Tyr36Phe | missense_variant | 1/8 | 1 | NM_032048.3 | ENSP00000254528 | P1 | |
ENST00000693116.1 | n.77+479T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151730Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000491 AC: 57AN: 1160758Hom.: 0 Cov.: 31 AF XY: 0.0000428 AC XY: 24AN XY: 561386
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151730Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74118
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 10, 2024 | The c.107A>T (p.Y36F) alteration is located in exon 1 (coding exon 1) of the EMILIN2 gene. This alteration results from a A to T substitution at nucleotide position 107, causing the tyrosine (Y) at amino acid position 36 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