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NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) AND Retinitis pigmentosa 25

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 14, 2024
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:
RCV002248812.2

Allele description [Variation Report for NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)]

NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)

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.8545C>T (p.Arg2849Ter)
HGVS:
  • NC_000006.12:g.63721486G>A
  • NG_023443.2:g.1990740C>T
  • NG_034034.2:g.90686G>A
  • NM_001142800.2:c.8545C>TMANE SELECT
  • NM_001290259.2:c.*7778G>A
  • NM_001292009.2:c.8608C>T
  • NM_001370348.2:c.*7778G>AMANE SELECT
  • NM_001370349.2:c.*7778G>A
  • NM_001370350.2:c.*7778G>A
  • NM_015153.4:c.*7778G>A
  • NP_001136272.1:p.Arg2849Ter
  • NP_001278938.1:p.Arg2870Ter
  • NC_000006.11:g.64431382G>A
  • NM_001142800.1:c.8545C>T
Protein change:
R2849*
Links:
dbSNP: rs1326635278
NCBI 1000 Genomes Browser:
rs1326635278
Molecular consequence:
  • NM_001290259.2:c.*7778G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370348.2:c.*7778G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370349.2:c.*7778G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370350.2:c.*7778G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_015153.4:c.*7778G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001142800.2:c.8545C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001292009.2:c.8608C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002519632Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Pathogenic
(May 4, 2022)
germlineclinical testing

Citation Link,

SCV005060480Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 14, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mendelics, SCV002519632.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV005060480.1

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

Last Updated: Sep 29, 2024