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NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000626764.3

Allele description [Variation Report for NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)]

NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)

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.8519A>G (p.Glu2840Gly)
HGVS:
  • NC_000006.12:g.63721512T>C
  • NG_023443.2:g.1990714A>G
  • NM_001142800.2:c.8519A>GMANE SELECT
  • NM_001290259.2:c.*7804T>C
  • NM_001292009.2:c.8582A>G
  • NM_001370348.2:c.*7804T>CMANE SELECT
  • NM_001370349.2:c.*7804T>C
  • NM_001370350.2:c.*7804T>C
  • NM_015153.4:c.*7804T>C
  • NP_001136272.1:p.Glu2840Gly
  • NP_001278938.1:p.Glu2861Gly
  • NP_001278938.1:p.Glu2861Gly
  • NC_000006.11:g.64431408T>C
  • NM_001142800.1:c.8519A>G
  • NM_001292009.1:c.8582A>G
Protein change:
E2840G
Links:
dbSNP: rs1554163965
NCBI 1000 Genomes Browser:
rs1554163965
Molecular consequence:
  • NM_001290259.2:c.*7804T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370348.2:c.*7804T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370349.2:c.*7804T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370350.2:c.*7804T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_015153.4:c.*7804T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001142800.2:c.8519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292009.2:c.8582A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Astigmatism
Identifiers:
MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483
Name:
Cystoid macular edema (DCMD)
Synonyms:
CYSTOID MACULAR DYSTROPHY; MACULAR DYSTROPHY, DOMINANT CYSTOID
Identifiers:
MONDO: MONDO:0007935; MedGen: C0024440; Orphanet: 75381; OMIM: 153880; Human Phenotype Ontology: HP:0011505
Name:
Abnormal electroretinogram
Identifiers:
MedGen: C0476397; Human Phenotype Ontology: HP:0000512
Name:
Pigmentary retinopathy
Synonyms:
Rarefaction of retinal pigmentation; Pigmentary retinal deposits
Identifiers:
MedGen: C4551715; Human Phenotype Ontology: HP:0000580
Name:
Dyschromatopsia
Identifiers:
MedGen: C0858618; Human Phenotype Ontology: HP:0007641
Name:
Abnormality of retinal pigmentation
Identifiers:
MedGen: C1862475; Human Phenotype Ontology: HP:0007703
Name:
Electronegative electroretinogram
Identifiers:
MedGen: C4021561; Human Phenotype Ontology: HP:0007984

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747467Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747467.1

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

Last Updated: Jun 23, 2024