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NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) AND Macular degeneration, age-related, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2004
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:
RCV000005817.5

Allele description [Variation Report for NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)]

NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)

Gene:
FBLN5:fibulin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)
HGVS:
  • NC_000014.9:g.91870336C>T
  • NG_008254.1:g.82367G>A
  • NM_001384158.1:c.1358G>A
  • NM_001384159.1:c.1286G>A
  • NM_001384160.1:c.*19G>A
  • NM_001384161.1:c.*19G>A
  • NM_001384162.1:c.1067G>A
  • NM_006329.3:c.1235G>A
  • NM_006329.4:c.1235G>AMANE SELECT
  • NP_001371087.1:p.Gly453Glu
  • NP_001371088.1:p.Gly429Glu
  • NP_001371091.1:p.Gly356Glu
  • NP_006320.2:p.Gly412Glu
  • LRG_364t1:c.1235G>A
  • LRG_364:g.82367G>A
  • NC_000014.8:g.92336680C>T
  • Q9UBX5:p.Gly412Glu
Protein change:
G356E; GLY412GLU
Links:
UniProtKB: Q9UBX5#VAR_019820; OMIM: 604580.0009; dbSNP: rs121434303
NCBI 1000 Genomes Browser:
rs121434303
Molecular consequence:
  • NM_001384160.1:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001384161.1:c.*19G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001384158.1:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384159.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384162.1:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006329.4:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macular degeneration, age-related, 3 (ARMD3)
Identifiers:
MONDO: MONDO:0012145; MedGen: C1837187; Orphanet: 280598; OMIM: 608895

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025999OMIM
no assertion criteria provided
Pathogenic
(Jul 22, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense variations in the fibulin 5 gene and age-related macular degeneration.

Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC.

N Engl J Med. 2004 Jul 22;351(4):346-53.

PubMed [citation]
PMID:
15269314

Details of each submission

From OMIM, SCV000025999.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with age-related macular degeneration-3 and basal laminar drusen (ARMD3; 608895), Stone et al. (2004) identified a heterozygous c.1235G-A transition in the FBLN5 gene, resulting in a gly412-to-glu (G412E) substitution. This patient was 1 of 402 patients with age-related macular degeneration who were examined in a retina clinic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024