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NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) AND Early-onset retinal dystrophy

Germline classification:
Pathogenic (1 submission)
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:
RCV001250817.1

Allele description [Variation Report for NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)]

NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)
HGVS:
  • NC_000017.11:g.8016451_8016454dup
  • NG_009092.1:g.18782_18785dup
  • NM_000180.4:c.3233_3236dupMANE SELECT
  • NP_000171.1:p.His1079fs
  • NC_000017.10:g.7919769_7919772dup
  • NM_000180.3:c.3233_3236dup
  • NM_000180.3:c.3233-3236dup
Protein change:
H1079fs
Links:
dbSNP: rs386834239
NCBI 1000 Genomes Browser:
rs386834239
Molecular consequence:
  • NM_000180.4:c.3233_3236dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Early-onset retinal dystrophy
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001426302Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Citations

PubMed

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.

Hum Mutat. 2004 Apr;23(4):306-17.

PubMed [citation]
PMID:
15024725

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001426302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024