NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) AND Pierson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2004
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:: RCV000015630.26

Allele description [Variation Report for NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)]

NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)

Gene:

LAMB2:laminin subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)

HGVS:

NC_000003.12:g.49121435dup
NG_008094.1:g.16732dup
NG_054716.1:g.4504dup
NM_002292.4:c.5258dupMANE SELECT
NP_002283.3:p.Glu1754fs
NC_000003.11:g.49158868dup
NM_002292.3:c.5258dupA

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

E1754fs

Links:

OMIM: 150325.0003; dbSNP: rs1560063136

NCBI 1000 Genomes Browser:

rs1560063136

Molecular consequence:

NM_002292.4:c.5258dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Pierson syndrome
Synonyms:: Microcoria and congenital nephrotic syndrome; MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
Identifiers:: MONDO: MONDO:0012184; MedGen: C1836876; Orphanet: 2670; OMIM: 609049

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035895	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035895

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2004)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A.

Hum Mol Genet. 2004 Nov 1;13(21):2625-32. Epub 2004 Sep 14.

PubMed [citation]

PMID:: 15367484

Details of each submission

From OMIM, SCV000035895.2

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

Description

In a German child with Pierson syndrome (PIERS; 609049), Zenker et al. (2004) identified a homozygous 1-bp insertion in the LAMB2 gene, 5259insA, resulting in a premature stop at codon 1760.

#	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

Last Updated: Jul 29, 2023

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