NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) AND Retinitis pigmentosa 25

Clinical significance:Pathogenic (Last evaluated: Jan 3, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000664630.2

Allele description [Variation Report for NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)]

NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)

Gene:
EYS:eyes shut homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q12
Genomic location:
Preferred name:
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
HGVS:
  • NC_000006.12:g.65402507A>T
  • NG_023443.2:g.309719T>A
  • NM_001142800.2:c.1155T>AMANE SELECT
  • NM_001142801.2:c.1155T>A
  • NM_001292009.2:c.1155T>A
  • NM_198283.2:c.1155T>A
  • NP_001136272.1:p.Cys385Ter
  • NP_001136273.1:p.Cys385Ter
  • NP_001278938.1:p.Cys385Ter
  • NP_938024.1:p.Cys385Ter
  • NC_000006.11:g.66112400A>T
  • NM_001142800.1:c.1155T>A
Protein change:
C385*
Links:
dbSNP: rs143994166
NCBI 1000 Genomes Browser:
rs143994166
Molecular consequence:
  • NM_001142800.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142801.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001292009.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198283.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788626Counsylcriteria provided, single submitter
Pathogenic
(Jan 3, 2018)
unknownclinical testing

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

Citation Link,

SCV001142363Reproductive Health Research and Development,BGI Genomicsno assertion criteria providedPathogenic
(Jan 6, 2020)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG.

Genes (Basel). 2017 Jul 12;8(7). doi:pii: E178. 10.3390/genes8070178.

PubMed [citation]
PMID:
28704921
PMCID:
PMC5541311

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM.

J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11.

PubMed [citation]
PMID:
27208204
PMCID:
PMC5106339

Details of each submission

From Counsyl, SCV000788626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Reproductive Health Research and Development,BGI Genomics, SCV001142363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_001142800.1:c.1155T>A in the EYS gene has an allele frequency of 0.006 in European (Finnish) subpopulation in the gnomAD database. The EYS c.1155T>A (p.Cys385*) variant results in a premature termination codon, predicted to cause a truncated or absent EYS protein due to nonsense mediated decay. This variant has been observed in a patient with retinitis pigmentosa, in a compound heterozygous state with c.8648_8655delCATGCAGA (p.Thr2883Lysfs*4) (PMID: 28704921). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM3; PP4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center