NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) AND Exudative vitreoretinopathy 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 22, 2024
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:: RCV004762156.1

Allele description [Variation Report for NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)]

NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)

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.2555C>T (p.Thr852Met)

HGVS:

NC_000011.10:g.68413740C>T
NG_015835.2:g.106101C>T
NM_001291902.2:c.812C>T
NM_002335.4:c.2555C>TMANE SELECT
NP_001278831.1:p.Thr271Met
NP_002326.2:p.Thr852Met
NC_000011.9:g.68181208C>T
NM_002335.3:c.2555C>T

Protein change:

T271M

Links:

dbSNP: rs1398692057

NCBI 1000 Genomes Browser:

rs1398692057

Molecular consequence:

NM_001291902.2:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002335.4:c.2555C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005374015	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 22, 2024)	germline	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

SCV005374015

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 22, 2024)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV005374015.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine