NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) AND Exudative vitreoretinopathy 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 31, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000490288.1

Allele description [Variation Report for NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)]

NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)

Gene:

LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)

Other names:

NM_001291902.1(LRP5):c.1618A>G(p.Asn540Asp); NM_002335.3(LRP5):c.3361A>G(p.Asn1121Asp)

HGVS:

NC_000011.10:g.68425226A>G
NG_015835.2:g.117587A>G
NM_001291902.2:c.1618A>G
NM_002335.4:c.3361A>GMANE SELECT
NP_001278831.1:p.Asn540Asp
NP_002326.2:p.Asn1121Asp
NC_000011.9:g.68192694A>G
NG_015835.1:g.117587A>G
NM_002335.2:c.3361A>G
NM_002335.3:c.3361A>G

Protein change:

N1121D

Links:

dbSNP: rs80358317

NCBI 1000 Genomes Browser:

rs80358317

Molecular consequence:

NM_001291902.2:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002335.4:c.3361A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Exudative vitreoretinopathy 4 (EVR4)
Identifiers:: MONDO: MONDO:0011151; MedGen: C1866176; Orphanet: 891; OMIM: 601813

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267389	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 15981244, 25741868
SCV000803439	SIB Swiss Institute of Bioinformatics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 31, 2018)	unknown	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267389

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

SCV000803439

SIB Swiss Institute of Bioinformatics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 31, 2018)

unknown

curation

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	curation
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H.

Hum Mutat. 2005 Aug;26(2):104-12.

PubMed [citation]

PMID:: 15981244

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267389.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

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

From SIB Swiss Institute of Bioinformatics, SCV000803439.1

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

Description

This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Exudative vitreoretinopathy 4, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1-Supporting => BS1 downgraded in strength to supporting.

#	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: Feb 20, 2024

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