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NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) AND Retinitis pigmentosa 25

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 12, 2020
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:
RCV000678569.4

Allele description [Variation Report for NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)]

NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)

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.6284C>T (p.Pro2095Leu)
HGVS:
  • NC_000006.12:g.64230732G>A
  • NG_023443.2:g.1481494C>T
  • NM_001142800.2:c.6284C>TMANE SELECT
  • NM_001292009.2:c.6284C>T
  • NP_001136272.1:p.Pro2095Leu
  • NP_001278938.1:p.Pro2095Leu
  • NC_000006.11:g.64940625G>A
  • NM_001142800.1:c.6284C>T
Protein change:
P2095L
Links:
dbSNP: rs200374024
NCBI 1000 Genomes Browser:
rs200374024
Molecular consequence:
  • NM_001142800.2:c.6284C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292009.2:c.6284C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804648Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Uncertain significance
(Sep 1, 2016) 		inheritedclinical testing

SCV002084323Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jun 12, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804648.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

From Natera, Inc., SCV002084323.1

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

Last Updated: Apr 15, 2024