NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) AND Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 17, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000721927.10

Allele description [Variation Report for NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)]

NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)

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_018965.4(TREM2):c.97C>T (p.Gln33Ter)

HGVS:

NC_000006.12:g.41161557G>A
NG_011561.1:g.6628C>T
NM_001271821.2:c.97C>T
NM_018965.4:c.97C>TMANE SELECT
NP_001258750.1:p.Gln33Ter
NP_061838.1:p.Gln33Ter
LRG_631t1:c.97C>T
LRG_631:g.6628C>T
LRG_631p1:p.Gln33Ter
NC_000006.11:g.41129295G>A
NM_018965.2:c.97C>T
NM_018965.3:c.97C>T

Protein change:

Q33*; GLN33TER

Links:

OMIM: 605086.0007; dbSNP: rs104894002

NCBI 1000 Genomes Browser:

rs104894002

Molecular consequence:

NM_001271821.2:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018965.4:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Identifiers:: MONDO: MONDO:0020750; MedGen: C4748657; OMIM: 618193

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025711	OMIM	no assertion criteria provided	Pathogenic (May 10, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001146845	SIB Swiss Institute of Bioinformatics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 17, 2019)	unknown	curation	PubMed (6) [See all records that cite these PMIDs] 12754369, 23399524, 25615530, 29142083, 15883308, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025711

OMIM

no assertion criteria provided

Pathogenic
(May 10, 2005)

germline

literature only

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

SCV001146845

SIB Swiss Institute of Bioinformatics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 17, 2019)

unknown

curation

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.

Soragna D, Papi L, Ratti MT, Sestini R, Tupler R, Montalbetti L.

J Neurol Neurosurg Psychiatry. 2003 Jun;74(6):825-6. No abstract available. Erratum in: J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1165.

PubMed [citation]

PMID:: 12754369
PMCID:: PMC1738498

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.

Bock V, Botturi A, Gaviani P, Lamperti E, Maccagnano C, Piccio L, Silvani A, Salmaggi A.

J Neurol Sci. 2013 Mar 15;326(1-2):115-9. doi: 10.1016/j.jns.2013.01.021. Epub 2013 Feb 9. Review.

PubMed [citation]

PMID:: 23399524

See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000025711.5

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

Description

In 2 Belgian sibs with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL2; 618193), Klunemann et al. (2005) identified a homozygous 97C-T transition in exon 2 of the TREM2 gene, resulting in a gln33-to-ter (Q33X) substitution and premature termination of the protein.

#	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 SIB Swiss Institute of Bioinformatics, SCV001146845.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (6)

Description

This variant is interpreted as Pathogenic for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 , autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PM3, PS3, PVS1-Strong.

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

Last Updated: Nov 3, 2024

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