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NM_000330.4(RS1):c.377A>G (p.Asp126Gly) AND Juvenile retinoschisis

Germline classification:
Pathogenic (1 submission)
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:
RCV003412577.2

Allele description [Variation Report for NM_000330.4(RS1):c.377A>G (p.Asp126Gly)]

NM_000330.4(RS1):c.377A>G (p.Asp126Gly)

Genes:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
HGVS:
  • NC_000023.11:g.18644575T>C
  • NG_008475.1:g.223971T>C
  • NG_008659.3:g.37874A>G
  • NM_000330.4:c.377A>GMANE SELECT
  • NM_001037343.2:c.2714-1432T>C
  • NM_003159.3:c.2714-1432T>C
  • NP_000321.1:p.Asp126Gly
  • NP_000321.1:p.Asp126Gly
  • LRG_702t1:c.377A>G
  • LRG_702:g.37874A>G
  • LRG_702p1:p.Asp126Gly
  • NC_000023.10:g.18662695T>C
  • NM_000330.3:c.377A>G
Protein change:
D126G
Molecular consequence:
  • NM_001037343.2:c.2714-1432T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.3:c.2714-1432T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000330.4:c.377A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
sequence_variant_causing_polypeptide_localization_change [Sequence Ontology: SO:1000121] - Comment(s)

Condition(s)

Name:
Juvenile retinoschisis (RS1)
Synonyms:
XJR; X-linked retinoschisis; Retinoschisis juvenile X chromosome-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010725; MedGen: C3714753; Orphanet: 792; OMIM: 312700

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004123284Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermline, not applicableresearch, in vitro

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
Thaigermlineyes4not providednot provided4not providedresearch

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 Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University, SCV004123284.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
2Thai1not providednot providedresearch PubMed (1)
3Thai1not providednot providedresearch PubMed (1)
4Thai1not providednot providedresearch PubMed (1)
5Thai1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providedassert pathogenicitynot providednot providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided
4germlineyes1not providednot provided1not providednot providednot provided
5germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024