NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001213720.6

Allele description [Variation Report for NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)]

NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)

Genes:

PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)

HGVS:

NC_000006.12:g.63721372C>A
NG_023443.2:g.1990854G>T
NG_034034.2:g.90572C>A
NM_001142800.2:c.8659G>TMANE SELECT
NM_001290259.2:c.*7664C>A
NM_001292009.2:c.8722G>T
NM_001370348.2:c.*7664C>AMANE SELECT
NM_001370349.2:c.*7664C>A
NM_001370350.2:c.*7664C>A
NM_015153.4:c.*7664C>A
NP_001136272.1:p.Gly2887Ter
NP_001278938.1:p.Gly2908Ter
NC_000006.11:g.64431268C>A
NM_001142800.1:c.8659G>T

Protein change:

G2887*

Links:

dbSNP: rs1768381543

NCBI 1000 Genomes Browser:

rs1768381543

Molecular consequence:

NM_001290259.2:c.*7664C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7664C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7664C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7664C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7664C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8659G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001292009.2:c.8722G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001385368	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 26, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18976725, 30337596, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001385368

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 26, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP.

Am J Hum Genet. 2008 Nov;83(5):594-603. doi: 10.1016/j.ajhg.2008.10.014. Epub 2008 Oct 30.

PubMed [citation]

PMID:: 18976725
PMCID:: PMC2668042

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Ezquerra-Inchausti M, Anasagasti A, Barandika O, Garay-Aramburu G, Galdós M, López de Munain A, Irigoyen C, Ruiz-Ederra J.

Sci Rep. 2018 Oct 18;8(1):15457. doi: 10.1038/s41598-018-33810-3. Erratum in: Sci Rep. 2019 May 28;9(1):8113. doi: 10.1038/s41598-019-44425-7.

PubMed [citation]

PMID:: 30337596
PMCID:: PMC6194132

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001385368.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gly2887*) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 258 amino acid(s) of the EYS protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 943519). This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 30337596). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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