NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) AND Leber congenital amaurosis 1

Germline classification:: Benign (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000987742.9

Allele description [Variation Report for NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)]

NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)

Gene:

LCA5:lebercilin LCA5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)

HGVS:

NC_000006.12:g.79487131C>T
NG_016011.1:g.55300G>A
NM_001122769.3:c.1967G>AMANE SELECT
NM_181714.4:c.1967G>A
NP_001116241.1:p.Gly656Asp
NP_859065.2:p.Gly656Asp
NP_859065.2:p.Gly656Asp
NC_000006.11:g.80196848C>T
NM_181714.3:c.1967G>A
NM_181714.4:c.1967G>A
Q86VQ0:p.Gly656Asp

Protein change:

G656D

Links:

UniProtKB: Q86VQ0#VAR_038992; dbSNP: rs1875845

NCBI 1000 Genomes Browser:

rs1875845

Molecular consequence:

NM_001122769.3:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181714.4:c.1967G>A - 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

Recent activity

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L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
gi|2583125944|gb|KAK2424067.1||gnl| AVQLX|drTriRepe4Chr6g412600.1.cds

Protein
Leishmania major strain Friedlin alpha tubulin partial mRNA
Leishmania major strain Friedlin alpha tubulin partial mRNA
gi|157866133|ref|XM_001681721.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137182	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137182

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001137182.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 10, 2024

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