NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 17, 2023
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:: RCV003689100.2

Allele description [Variation Report for NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)]

NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)

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.2293C>T (p.Arg765Ter)

HGVS:

NC_000017.11:g.59017389G>A
NG_009298.1:g.94517C>T
NG_009298.2:g.94491C>T
NM_001005207.5:c.2293C>T
NM_001320987.3:c.2191C>T
NM_001320988.3:c.2293C>T
NM_001320989.3:c.2293C>T
NM_001320990.3:c.1927C>T
NM_001353082.2:c.2191C>T
NM_001353083.2:c.1558C>T
NM_001353084.2:c.2293C>T
NM_001353085.2:c.1831C>T
NM_001353086.2:c.2242C>T
NM_015294.6:c.2293C>TMANE SELECT
NP_001005207.1:p.Arg765Ter
NP_001307916.1:p.Arg731Ter
NP_001307917.1:p.Arg765Ter
NP_001307918.1:p.Arg765Ter
NP_001307919.1:p.Arg643Ter
NP_001340011.1:p.Arg731Ter
NP_001340012.1:p.Arg520Ter
NP_001340013.1:p.Arg765Ter
NP_001340014.1:p.Arg611Ter
NP_001340015.1:p.Arg748Ter
NP_056109.1:p.Arg765Ter
NC_000017.10:g.57094750G>A
NR_148346.2:n.2712C>T
NR_148347.2:n.2610C>T

Protein change:

R520*

Molecular consequence:

NR_148346.2:n.2712C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148347.2:n.2610C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001005207.5:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001320987.3:c.2191C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001320988.3:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001320989.3:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001320990.3:c.1927C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353082.2:c.2191C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353083.2:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353084.2:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353085.2:c.1831C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353086.2:c.2242C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015294.6:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC127820364 [Homo sapiens]
LOC127820364 [Homo sapiens]
Gene ID:127820364

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004434662	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 17, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10888877, 15108285, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004434662

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 17, 2023)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE.

Nat Genet. 2000 Jul;25(3):298-301.

PubMed [citation]

PMID:: 10888877

Novel mutations in the TRIM37 gene in Mulibrey Nanism.

Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE.

Hum Mutat. 2004 May;23(5):522.

PubMed [citation]

PMID:: 15108285

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004434662.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg765*) in the TRIM37 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIM37 are known to be pathogenic (PMID: 10888877, 15108285). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TRIM37-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

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