NM_015294.6(TRIM37):c.1870del (p.Asp624fs) AND Mulibrey nanism syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV000778507.4

Allele description [Variation Report for NM_015294.6(TRIM37):c.1870del (p.Asp624fs)]

NM_015294.6(TRIM37):c.1870del (p.Asp624fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_015294.6(TRIM37):c.1870del (p.Asp624fs)

HGVS:

NC_000017.11:g.59031975del
NG_009298.1:g.79932del
NM_001005207.5:c.1870del
NM_001320987.3:c.1768del
NM_001320988.3:c.1870del
NM_001320989.3:c.1870del
NM_001320990.3:c.1504del
NM_001353082.2:c.1768del
NM_001353083.2:c.1135del
NM_001353084.2:c.1870del
NM_001353085.2:c.1408del
NM_001353086.2:c.1819del
NM_015294.6:c.1870delMANE SELECT
NP_001005207.1:p.Asp624fs
NP_001307916.1:p.Asp590fs
NP_001307917.1:p.Asp624fs
NP_001307918.1:p.Asp624fs
NP_001307919.1:p.Asp502fs
NP_001340011.1:p.Asp590fs
NP_001340012.1:p.Asp379fs
NP_001340013.1:p.Asp624fs
NP_001340014.1:p.Asp470fs
NP_001340015.1:p.Asp607fs
NP_056109.1:p.Asp624fs
NC_000017.10:g.57109336del
NM_015294.3:c.1870delG
NR_148346.2:n.2289del
NR_148347.2:n.2187del

Protein change:

D379fs

Links:

dbSNP: rs1568027916

NCBI 1000 Genomes Browser:

rs1568027916

Molecular consequence:

NM_001005207.5:c.1870del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320987.3:c.1768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320988.3:c.1870del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320989.3:c.1870del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320990.3:c.1504del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353082.2:c.1768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353083.2:c.1135del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353084.2:c.1870del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353085.2:c.1408del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353086.2:c.1819del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015294.6:c.1870del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148346.2:n.2289del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148347.2:n.2187del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000914780	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914780

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)

Uncertain significance
(Apr 28, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914780.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The TRIM37 c.1870delG (p.Asp624ThrfsTer8) variant results in a frameshift and is predicted to result in premature termination of the protein. variant results in a frameshift and is predicted to cause an elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for mulibrey nanism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Jul 29, 2023

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