NM_015294.6(TRIM37):c.937del (p.Tyr313fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 2, 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:: RCV003553973.2

Allele description [Variation Report for NM_015294.6(TRIM37):c.937del (p.Tyr313fs)]

NM_015294.6(TRIM37):c.937del (p.Tyr313fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_015294.6(TRIM37):c.937del (p.Tyr313fs)

HGVS:

NC_000017.11:g.59062574del
NG_009298.1:g.49334del
NG_009298.2:g.49308del
NM_001005207.5:c.937del
NM_001320987.3:c.835del
NM_001320988.3:c.937del
NM_001320989.3:c.937del
NM_001320990.3:c.571del
NM_001353082.2:c.835del
NM_001353083.2:c.202del
NM_001353084.2:c.937del
NM_001353085.2:c.475del
NM_001353086.2:c.886del
NM_015294.6:c.937delMANE SELECT
NP_001005207.1:p.Tyr313fs
NP_001307916.1:p.Tyr279fs
NP_001307917.1:p.Tyr313fs
NP_001307918.1:p.Tyr313fs
NP_001307919.1:p.Tyr191fs
NP_001340011.1:p.Tyr279fs
NP_001340012.1:p.Tyr68fs
NP_001340013.1:p.Tyr313fs
NP_001340014.1:p.Tyr159fs
NP_001340015.1:p.Tyr296fs
NP_056109.1:p.Tyr313fs
NC_000017.10:g.57139933del
NC_000017.10:g.57139935del
NR_148346.2:n.1356del
NR_148347.2:n.1254del

Protein change:

Y159fs

Molecular consequence:

NM_001005207.5:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320987.3:c.835del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320988.3:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320989.3:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320990.3:c.571del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353082.2:c.835del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353083.2:c.202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353084.2:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353085.2:c.475del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353086.2:c.886del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015294.6:c.937del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148346.2:n.1356del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148347.2:n.1254del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004276662	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 2, 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

SCV004276662

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 2, 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, SCV004276662.1

#	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.Tyr313Thrfs*33) 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 not present in population databases (gnomAD no frequency). 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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