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NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) AND Leber congenital amaurosis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2013
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:
RCV000055776.2

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:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086737GeneReviews
no assertion criteria provided
pathologic
(May 2, 2013) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 6, 2024