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NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 2022
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:
RCV004018565.1

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:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004970658Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 3, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J.

JAMA Neurol. 2013 Jan;70(1):78-84. doi: 10.1001/jamaneurol.2013.579.

PubMed [citation]
PMID:
23318515
PMCID:
PMC4001789
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV004970658.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.97C>T (p.Q33*) alteration, located in exon 2 (coding exon 2) of the TREM2 gene, consists of a C to T substitution at nucleotide position 97. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 33. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (5/248072) total alleles studied. The highest observed frequency was 0.005% (5/110958) of European (non-Finnish) alleles. This alteration has been detected in the homozygous state in multiple unrelated individuals with TREM2-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. It has also been found to cosegregate among affected homozygous siblings (Coomans, 2018; Guerreiro, 2013; Bock, 2013; Soragna, 2003). Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024