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NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) AND Retinitis pigmentosa

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000787602.1

Allele description [Variation Report for NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)]

NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)

Genes:
PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
EYS:eyes shut homolog [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q12
Genomic location:
Preferred name:
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
HGVS:
  • NC_000006.12:g.63720695_63720714del
  • NG_023443.2:g.1991512_1991531del
  • NG_034034.2:g.89895_89914del
  • NM_001142800.2:c.9317_9336delMANE SELECT
  • NM_001290259.2:c.*6987_*7006del
  • NM_001292009.2:c.9380_9399del
  • NM_001370348.2:c.*6987_*7006delMANE SELECT
  • NM_001370349.2:c.*6987_*7006del
  • NM_001370350.2:c.*6987_*7006del
  • NM_015153.4:c.*6987_*7006del
  • NP_001136272.1:p.Thr3106fs
  • NP_001278938.1:p.Thr3127fs
  • NC_000006.11:g.64430591_64430610del
  • NC_000006.12:g.63720695_63720714delAATTTTGCCAACAAAATTGG
  • NM_001142800.1:c.9317_9336del20
Protein change:
T3106fs
Links:
dbSNP: rs1326370032
NCBI 1000 Genomes Browser:
rs1326370032
Molecular consequence:
  • NM_001290259.2:c.*6987_*7006del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370348.2:c.*6987_*7006del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370349.2:c.*6987_*7006del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370350.2:c.*6987_*7006del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_015153.4:c.*6987_*7006del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001142800.2:c.9317_9336del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292009.2:c.9380_9399del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000926585Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD
no assertion criteria provided
Likely pathogenic
(Apr 1, 2018)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926585.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024