NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) AND Retinitis pigmentosa

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001164471.5

Allele description [Variation Report for NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)]

NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)

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.8429C>T (p.Thr2810Ile)

HGVS:

NC_000006.12:g.63721602G>A
NG_023443.2:g.1990624C>T
NG_034034.2:g.90802G>A
NM_001142800.2:c.8429C>TMANE SELECT
NM_001290259.2:c.*7894G>A
NM_001292009.2:c.8492C>T
NM_001370348.2:c.*7894G>AMANE SELECT
NM_001370349.2:c.*7894G>A
NM_001370350.2:c.*7894G>A
NM_015153.4:c.*7894G>A
NP_001136272.1:p.Thr2810Ile
NP_001278938.1:p.Thr2831Ile
FM209056.1:c.8492C>T
NC_000006.11:g.64431498G>A
NM_001142800.1:c.8429C>T

Protein change:

T2810I

Links:

dbSNP: rs144513453

NCBI 1000 Genomes Browser:

rs144513453

Molecular consequence:

NM_001290259.2:c.*7894G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7894G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7894G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7894G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7894G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8429C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001292009.2:c.8492C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001326603	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20333770, 20237254 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001326603

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

EYS is a major gene for rod-cone dystrophies in France.

Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.

Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249.

PubMed [citation]

PMID:: 20333770

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72. doi: 10.1167/iovs.09-5109. Epub 2010 Mar 17. Erratum in: Invest Ophthalmol Vis Sci. 2014 Dec;55(12):8055.

PubMed [citation]

PMID:: 20237254

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001326603.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: Oct 8, 2024

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