NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp) AND LAMB2-related infantile-onset nephrotic syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 30, 2018
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:: RCV000786973.2

Allele description [Variation Report for NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp)]

NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp)

HGVS:

NC_000003.12:g.49125081G>A
NG_008094.1:g.13086C>T
NG_054716.1:g.858C>T
NM_002292.4:c.2809C>TMANE SELECT
NP_002283.3:p.Arg937Trp
NC_000003.11:g.49162514G>A
NM_002292.3:c.2809C>T

Protein change:

R937W

Links:

dbSNP: rs745926869

NCBI 1000 Genomes Browser:

rs745926869

Molecular consequence:

NM_002292.4:c.2809C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: LAMB2-related infantile-onset nephrotic syndrome
Synonyms:: Nephrotic syndrome, type 5, with or without ocular abnormalities; NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES; NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
Identifiers:: MONDO: MONDO:0013621; MedGen: C3280113; Orphanet: 306507; OMIM: 614199

Recent activity

Clear Turn Off Turn On

PREDICTED: Mus musculus dynamin 1 (Dnm1), transcript variant X12, mRNA
PREDICTED: Mus musculus dynamin 1 (Dnm1), transcript variant X12, mRNA
gi|755497139|ref|XM_006497662.2|

Nucleotide
ridazolol [Supplementary Concept]
ridazolol [Supplementary Concept]
Date introduced: June 21, 1988<br/>

MeSH

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
SCV000925878	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Likely pathogenic (Oct 30, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000925878

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Likely pathogenic
(Oct 30, 2018)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000925878.1

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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine