NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter) AND Donnai-Barrow syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000767863.1

Allele description [Variation Report for NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)]

NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)

Gene:

LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)

HGVS:

NC_000002.12:g.169259064A>C
NG_012634.1:g.108549T>G
NM_004525.3:c.2474T>GMANE SELECT
NP_004516.2:p.Leu825Ter
LRG_1300t1:c.2474T>G
LRG_1300:g.108549T>G
LRG_1300p1:p.Leu825Ter
NC_000002.11:g.170115574A>C
NM_004525.2:c.2474T>G

Protein change:

L825*

Links:

dbSNP: rs1559043276

NCBI 1000 Genomes Browser:

rs1559043276

Molecular consequence:

NM_004525.3:c.2474T>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Donnai-Barrow syndrome
Synonyms:: Faciooculoacousticorenal syndrome; Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
Identifiers:: MONDO: MONDO:0009104; MedGen: C1857277; Orphanet: 2143; OMIM: 222448

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898009	Institute of Human Genetics, Cologne University	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898009

Institute of Human Genetics, Cologne University

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000898009.1

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

Last Updated: Nov 20, 2023

ClinVar

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