NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) AND Retinitis pigmentosa 25

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Sep 29, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000667682.10

Allele description [Variation Report for NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)]

NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)

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.8422G>A (p.Ala2808Thr)

HGVS:

NC_000006.12:g.63721609C>T
NG_023443.2:g.1990617G>A
NG_034034.2:g.90809C>T
NM_001142800.2:c.8422G>AMANE SELECT
NM_001290259.2:c.*7901C>T
NM_001292009.2:c.8485G>A
NM_001370348.2:c.*7901C>TMANE SELECT
NM_001370349.2:c.*7901C>T
NM_001370350.2:c.*7901C>T
NM_015153.4:c.*7901C>T
NP_001136272.1:p.Ala2808Thr
NP_001278938.1:p.Ala2829Thr
NC_000006.11:g.64431505C>T
NM_001142800.1:c.8422G>A

Protein change:

A2808T

Links:

dbSNP: rs111991705

NCBI 1000 Genomes Browser:

rs111991705

Molecular consequence:

NM_001290259.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7901C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001292009.2:c.8485G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 25 (RP25)
Synonyms:: RP 25
Identifiers:: MONDO: MONDO:0011272; MedGen: C1864446; Orphanet: 791; OMIM: 602772

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792170	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Jun 19, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 26787102, 25097241, 25133751, 24938718, 20333770 Citation Link,
SCV000885390	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Sep 29, 2019)	germline	clinical testing	Citation Link,
SCV001137155	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792170

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely benign
(Jun 19, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000885390

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(Sep 29, 2019)

germline

clinical testing

Citation Link,

SCV001137155

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Di Y, Huang L, Sundaresan P, Li S, Kim R, Ballav Saikia B, Qu C, Zhu X, Zhou Y, Jiang Z, Zhang L, Lin Y, Zhang D, Li Y, Zhang H, Yin Y, Lu F, Zhu X, Yang Z.

Sci Rep. 2016 Jan 20;6:19432. doi: 10.1038/srep19432.

PubMed [citation]

PMID:: 26787102
PMCID:: PMC4726297

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PubMed [citation]

PMID:: 25097241

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000792170.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885390.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Mendelics, SCV001137155.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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