NM_004525.3(LRP2):c.1341+2T>G AND Donnai-Barrow syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 28, 2011
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:: RCV000010064.3

Allele description

NM_004525.3(LRP2):c.1341+2T>G

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.1341+2T>G

HGVS:

NC_000002.12:g.169280348A>C
NG_012634.1:g.87265T>G
NM_004525.3:c.1341+2T>GMANE SELECT
LRG_1300t1:c.1341+2T>G
LRG_1300:g.87265T>G
NC_000002.11:g.170136858A>C
NM_004525.2:c.1341+2T>G

Nucleotide change:

IVS11DS, T-G, +2

Links:

OMIM: 600073.0007; dbSNP: rs80338745

NCBI 1000 Genomes Browser:

rs80338745

Molecular consequence:

NM_004525.3:c.1341+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000030285	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9475100, 17632512
SCV000041096	GeneReviews	no assertion criteria provided	pathologic (Jun 28, 2011)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030285

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2007)

germline

literature only

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

SCV000041096

GeneReviews

no assertion criteria provided

pathologic
(Jun 28, 2011)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

Devriendt K, Standaert L, Van Hole C, Devlieger H, Fryns JP.

J Med Genet. 1998 Jan;35(1):70-1.

PubMed [citation]

PMID:: 9475100
PMCID:: PMC1051192

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.

PubMed [citation]

PMID:: 17632512
PMCID:: PMC2891728

Details of each submission

From OMIM, SCV000030285.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a child with Donnai-Barrow syndrome (222448) originally reported by Devriendt et al. (1998), Kantarci et al. (2007) identified compound heterozygosity for 2 mutations in the LRP2 gene: a T-to-G transversion in exon 11 and R365X (600073.0008).

#	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 GeneReviews, SCV000041096.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 13, 2021

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