NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) AND Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 14, 2016
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:: RCV000005529.15

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 1 (PLOSL1)
Identifiers:: MONDO: MONDO:0020749; MedGen: C4721893; Orphanet: 2770; OMIM: 221770

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223801	GeneReviews	no classification provided	not provided	germline	literature only
SCV000734498	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV000745890	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided (ACGS Guidelines, 2013)	Pathogenic (Mar 14, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223801

GeneReviews

no classification provided

not provided

germline

literature only

SCV000734498

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV000745890

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

(ACGS Guidelines, 2013)

Pathogenic
(Mar 14, 2016)

germline

clinical testing

Citation Link

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, literature only

Details of each submission

From GeneReviews, SCV000223801.2

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

Description

This variant has been reported to cause a PLOSL with typical bone pathology on radiologic examination but also a frontotemporal dementia-like syndrome without bone pathology on radiographs.

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734498.1

#	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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745890.1

#	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: Nov 3, 2024

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