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NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) AND Retinitis pigmentosa

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 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:
RCV001162939.4

Allele description [Variation Report for NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)]

NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)

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.1596A>C (p.Lys532Asn)
HGVS:
  • NC_000006.12:g.65344041T>G
  • NG_023443.2:g.368185A>C
  • NM_001142800.2:c.1596A>CMANE SELECT
  • NM_001142801.2:c.1596A>C
  • NM_001292009.2:c.1596A>C
  • NM_198283.2:c.1596A>C
  • NP_001136272.1:p.Lys532Asn
  • NP_001136273.1:p.Lys532Asn
  • NP_001278938.1:p.Lys532Asn
  • NP_938024.1:p.Lys532Asn
  • FM209056.1:c.1596A>C
  • NC_000006.11:g.66053934T>G
  • NM_001142800.1:c.1596A>C
Protein change:
K532N
Links:
dbSNP: rs61753611
NCBI 1000 Genomes Browser:
rs61753611
Molecular consequence:
  • NM_001142800.2:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142801.2:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292009.2:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198283.2:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001324928Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

EYS is a major gene for rod-cone dystrophies in France.

Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.

Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249.

PubMed [citation]
PMID:
20333770

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001324928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Apr 15, 2024