NM_001142800.2:c.9427G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_001142800.2(EYS):c.9427G>T(p.Val3143Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000151 in 1,324,566 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001142800.2 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 |
---|---|---|---|---|---|---|---|---|---|---|
EYS | ENST00000503581.6 | c.9427G>T | p.Val3143Phe | missense_variant | Exon 43 of 43 | 5 | NM_001142800.2 | ENSP00000424243.1 | ||
EYS | ENST00000370621.7 | c.9490G>T | p.Val3164Phe | missense_variant | Exon 44 of 44 | 1 | ENSP00000359655.3 | |||
PHF3 | ENST00000262043.8 | c.*6896C>A | 3_prime_UTR_variant | Exon 16 of 16 | 5 | NM_001370348.2 | ENSP00000262043.4 | |||
PHF3 | ENST00000505138.1 | c.361+9242C>A | intron_variant | Intron 3 of 4 | 3 | ENSP00000421417.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000151 AC: 2AN: 1324566Hom.: 0 Cov.: 28 AF XY: 0.00000154 AC XY: 1AN XY: 648114
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at