NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) AND Leber congenital amaurosis 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1998
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:: RCV000009947.10

Allele description [Variation Report for NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)]

NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)

Gene:

GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)

HGVS:

NC_000017.11:g.8003201G>T
NG_009092.1:g.5532G>T
NM_000180.4:c.154G>TMANE SELECT
NP_000171.1:p.Ala52Ser
NP_000171.1:p.Ala52Ser
NC_000017.10:g.7906519G>T
NM_000180.3:c.154G>T
Q02846:p.Ala52Ser

Protein change:

A52S; ALA52SER

Links:

UniProtKB: Q02846#VAR_003435; OMIM: 600179.0004; dbSNP: rs61749665

NCBI 1000 Genomes Browser:

rs61749665

Molecular consequence:

NM_000180.4:c.154G>T - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030168	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030168

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1998)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J.

Am J Hum Genet. 1998 Aug;63(2):651-4. No abstract available.

PubMed [citation]

PMID:: 9683616
PMCID:: PMC1377325

Details of each submission

From OMIM, SCV000030168.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In all sibs with Leber congenital amaurosis (204000) in a consanguineous Arab Tunisian family, Perrault et al. (1996) found homozygosity for a G-to-T transversion at nucleotide 227 of GUC2D converting an alanine into a serine (A52S). Heterozygosity for the same mutation was detected in affected members of a family of Basque ancestry. As the same base change was detected in 2 of 100 controls, it was difficult to decide whether this was a disease-causing mutation or a rare polymorphism.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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