NM_018965.3(TREM2):c.233G>A (p.Trp78Ter) AND Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 12, 2015
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:: RCV000005523.2

Allele description

NM_018965.3(TREM2):c.233G>A (p.Trp78Ter)

Gene:

TREM2:triggering receptor expressed on myeloid cells 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_018965.3(TREM2):c.233G>A (p.Trp78Ter)

HGVS:

NC_000006.12:g.41161421C>T
NG_011561.1:g.6764G>A
NM_018965.3:c.233G>A
NP_061838.1:p.Trp78Ter
LRG_631t1:c.233G>A
LRG_631:g.6764G>A
LRG_631p1:p.Trp78Ter
NC_000006.11:g.41129159C>T
NM_018965.2:c.233G>A

Protein change:

W78*; TRP78TER

Links:

OMIM: 605086.0001; dbSNP: rs104893998

GMAF:

0.0002(T), 104893998

NCBI 1000 Genomes Browser:

rs104893998

Allele Frequency:

0.00001(T)

Molecular consequence:

NM_018965.3:c.233G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Identifiers:: MedGen: C1857316; Orphanet: 2770; OMIM: 221770

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025705	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000223799	GeneReviews	no assertion criteria provided	Pathogenic (Mar 12, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025705

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000223799

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 12, 2015)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L.

Am J Hum Genet. 2002 Sep;71(3):656-62. Epub 2002 Jun 21. Erratum in: Am J Hum Genet. 2003 Jan;72(1):225..

PubMed [citation]

PMID:: 12080485
PMCID:: PMC379202

DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.

Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M, Konttinen YT, Peltonen L.

J Exp Med. 2003 Aug 18;198(4):669-75.

PubMed [citation]

PMID:: 12925681
PMCID:: PMC2194176

Details of each submission

From OMIM, SCV000025705.1

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

Description

In 2 Swedish families, Paloneva et al. (2002) found that members with PLOSL (221770) had a homozygous G-to-A transition at position 233 of the TREM2 gene, changing tryptophan-78 to a translation termination codon (W78X).

#	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, SCV000223799.1

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

#	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: Jul 21, 2018

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