19-11454776-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001420.4(ELAVL3):c.854G>A(p.Cys285Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001420.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ELAVL3 | NM_001420.4 | c.854G>A | p.Cys285Tyr | missense_variant | Exon 7 of 7 | ENST00000359227.8 | NP_001411.2 | |
ELAVL3 | NM_032281.3 | c.833G>A | p.Cys278Tyr | missense_variant | Exon 7 of 7 | NP_115657.2 | ||
ELAVL3 | XM_011527778.3 | c.851G>A | p.Cys284Tyr | missense_variant | Exon 7 of 7 | XP_011526080.1 | ||
ELAVL3 | XM_024451413.1 | c.830G>A | p.Cys277Tyr | missense_variant | Exon 7 of 7 | XP_024307181.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ELAVL3 | ENST00000359227.8 | c.854G>A | p.Cys285Tyr | missense_variant | Exon 7 of 7 | 3 | NM_001420.4 | ENSP00000352162.1 | ||
ELAVL3 | ENST00000438662.6 | c.833G>A | p.Cys278Tyr | missense_variant | Exon 7 of 7 | 5 | ENSP00000390878.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.854G>A (p.C285Y) alteration is located in exon 7 (coding exon 7) of the ELAVL3 gene. This alteration results from a G to A substitution at nucleotide position 854, causing the cysteine (C) at amino acid position 285 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.