rs17411795
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001142800.2(EYS):c.1922A>T(p.Glu641Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.196 in 1,551,002 control chromosomes in the GnomAD database, including 31,981 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. E641E) has been classified as Likely benign.
Frequency
Consequence
NM_001142800.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EYS | NM_001142800.2 | c.1922A>T | p.Glu641Val | missense_variant | 12/43 | ENST00000503581.6 | |
EYS | NM_001292009.2 | c.1922A>T | p.Glu641Val | missense_variant | 12/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EYS | ENST00000503581.6 | c.1922A>T | p.Glu641Val | missense_variant | 12/43 | 5 | NM_001142800.2 | A2 | |
EYS | ENST00000370621.7 | c.1922A>T | p.Glu641Val | missense_variant | 12/44 | 1 | P2 | ||
EYS | ENST00000370615.3 | n.360A>T | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
EYS | ENST00000447127.1 | n.378A>T | non_coding_transcript_exon_variant | 3/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.162 AC: 24611AN: 151796Hom.: 2385 Cov.: 33
GnomAD3 exomes AF: 0.168 AC: 26497AN: 157354Hom.: 2688 AF XY: 0.165 AC XY: 13735AN XY: 83048
GnomAD4 exome AF: 0.200 AC: 279555AN: 1399088Hom.: 29597 Cov.: 45 AF XY: 0.197 AC XY: 135724AN XY: 690048
GnomAD4 genome ? AF: 0.162 AC: 24611AN: 151914Hom.: 2384 Cov.: 33 AF XY: 0.161 AC XY: 11970AN XY: 74268
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 03, 2014 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 05, 2011 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Retinitis pigmentosa Benign:2
Benign, no assertion criteria provided | clinical testing | Natera, Inc. | Sep 16, 2020 | - - |
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Retinitis pigmentosa 25 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
Retinal dystrophy Benign:1
Benign, criteria provided, single submitter | research | Dept Of Ophthalmology, Nagoya University | Oct 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at