NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) AND Macular degeneration, age-related, 3

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 18, 2017
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:: RCV000005816.8

Allele description [Variation Report for NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)]

NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)

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.1087G>A (p.Ala363Thr)

HGVS:

NC_000014.9:g.91877585C>T
NG_008254.1:g.75118G>A
NM_001384158.1:c.1210G>A
NM_001384159.1:c.1138G>A
NM_001384160.1:c.1087G>A
NM_001384161.1:c.919G>A
NM_001384162.1:c.919G>A
NM_006329.4:c.1087G>AMANE SELECT
NP_001371087.1:p.Ala404Thr
NP_001371088.1:p.Ala380Thr
NP_001371089.1:p.Ala363Thr
NP_001371090.1:p.Ala307Thr
NP_001371091.1:p.Ala307Thr
NP_006320.2:p.Ala363Thr
NP_006320.2:p.Ala363Thr
LRG_364t1:c.1087G>A
LRG_364:g.75118G>A
LRG_364p1:p.Ala363Thr
NC_000014.8:g.92343929C>T
NM_006329.3:c.1087G>A
Q9UBX5:p.Ala363Thr

Protein change:

A307T; ALA363THR

Links:

UniProtKB: Q9UBX5#VAR_019819; OMIM: 604580.0008; dbSNP: rs121434302

NCBI 1000 Genomes Browser:

rs121434302

Molecular consequence:

NM_001384158.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384159.1:c.1138G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384160.1:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384161.1:c.919G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384162.1:c.919G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006329.4:c.1087G>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

Recent activity

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BRCA1-associated RING domain protein 1 isoform 1 [Homo sapiens]
BRCA1-associated RING domain protein 1 isoform 1 [Homo sapiens]
gi|157266328|ref|NP_000456.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025998	OMIM	no assertion criteria provided	Pathogenic (Jul 22, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000746897	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 18, 2017)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025998

OMIM

no assertion criteria provided

Pathogenic
(Jul 22, 2004)

germline

literature only

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

SCV000746897

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 18, 2017)

inherited

clinical testing

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	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000025998.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.1087G-A transition in the FBLN5 gene, resulting in an ala363-to-thr (A363T) substitution. This patient was 1 of 402 patients with age-related macular degeneration who were examined in a retina clinic.

#	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

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000746897.2

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

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

Last Updated: Sep 29, 2024

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