NM_015294.6(TRIM37):c.1949-12A>G AND Mulibrey nanism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 2022
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:: RCV001418333.4

Allele description [Variation Report for NM_015294.6(TRIM37):c.1949-12A>G]

NM_015294.6(TRIM37):c.1949-12A>G

Gene:

TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_015294.6(TRIM37):c.1949-12A>G

HGVS:

NC_000017.11:g.59028735T>C
NG_009298.1:g.83171A>G
NM_001005207.5:c.1949-12A>G
NM_001320987.3:c.1847-12A>G
NM_001320988.3:c.1949-12A>G
NM_001320989.3:c.1949-12A>G
NM_001320990.3:c.1583-12A>G
NM_001353082.2:c.1847-12A>G
NM_001353083.2:c.1214-12A>G
NM_001353084.2:c.1949-12A>G
NM_001353085.2:c.1487-12A>G
NM_001353086.2:c.1898-12A>G
NM_015294.6:c.1949-12A>GMANE SELECT
NC_000017.10:g.57106096T>C

Nucleotide change:

IVS18, A-G, -12

Links:

OMIM: 605073.0008; dbSNP: rs1409660715

NCBI 1000 Genomes Browser:

rs1409660715

Molecular consequence:

NM_001005207.5:c.1949-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320987.3:c.1847-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320988.3:c.1949-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320989.3:c.1949-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320990.3:c.1583-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353082.2:c.1847-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353083.2:c.1214-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353084.2:c.1949-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353085.2:c.1487-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353086.2:c.1898-12A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_015294.6:c.1949-12A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Mulibrey nanism syndrome
Synonyms:: Muscle-liver-brain-eye nanism; Pericardial constriction and growth failure; Perheentupa syndrome
Identifiers:: MONDO: MONDO:0009664; MedGen: C0524582; Orphanet: 2576; OMIM: 253250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001620558	OMIM	no assertion criteria provided	Pathogenic (Sep 8, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001620558

OMIM

no assertion criteria provided

Pathogenic
(Sep 8, 2022)

germline

literature only

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

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

Citations

PubMed

CD4(+) T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.

Bruzzaniti S, Cirillo E, Prencipe R, Giardino G, Lepore MT, Garziano F, Perna F, Procaccini C, Mascolo L, Pagano C, Fattorusso V, Mozzillo E, Bifulco M, Matarese G, Franzese A, Pignata C, Galgani M.

Front Immunol. 2020;11:1742. doi: 10.3389/fimmu.2020.01742.

PubMed [citation]

PMID:: 33042106
PMCID:: PMC7530177

Details of each submission

From OMIM, SCV001620558.3

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

Description

In an 11-year-old boy with mulibrey nanism (MUL; 253250), Bruzzaniti et al. (2020) identified a paternally inherited splice site mutation in intron 18 (c.1949-12A-G) of the TRIM37 gene and a maternally inherited deletion on chromosome 17q22 (chr17:57,086,110-57,229,241) including the TRIM37 gene. The mutation was found by exome sequencing and the deletion was found by SNP array. TRIM37 protein expression was reduced in patient-derived stimulated and unstimulated CD4+ and CD8+ cells, with a greater reduction in CD4+ cells.

#	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

Last Updated: Dec 24, 2023

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