U.S. flag

An official website of the United States government

NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) AND TRIM32-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 2024
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:
RCV003405557.5

Allele description [Variation Report for NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)]

NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)

Genes:
ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
Other names:
R316*
HGVS:
  • NC_000009.12:g.116699579C>T
  • NG_011619.1:g.17278C>T
  • NG_021409.2:g.720479G>A
  • NM_001099679.2:c.1837C>T
  • NM_001365068.1:c.2806+26192G>AMANE SELECT
  • NM_001365069.1:c.2794+26192G>A
  • NM_001379048.1:c.1837C>T
  • NM_001379049.1:c.1837C>T
  • NM_001379050.1:c.1837C>T
  • NM_012210.4:c.1837C>TMANE SELECT
  • NM_014010.5:c.2653+26192G>A
  • NP_001093149.1:p.Arg613Ter
  • NP_001365977.1:p.Arg613Ter
  • NP_001365978.1:p.Arg613Ter
  • NP_001365979.1:p.Arg613Ter
  • NP_036342.2:p.Arg613Ter
  • NP_036342.2:p.Arg613Ter
  • LRG_211t1:c.1837C>T
  • LRG_211:g.17278C>T
  • LRG_211p1:p.Arg613Ter
  • NC_000009.11:g.119461858C>T
  • NM_012210.3:c.1837C>T
  • NM_012210.3:c.1837C>T
Protein change:
R613*; ARG316TER
Links:
OMIM: 602290.0005; dbSNP: rs199664043
NCBI 1000 Genomes Browser:
rs199664043
Molecular consequence:
  • NM_001365068.1:c.2806+26192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365069.1:c.2794+26192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014010.5:c.2653+26192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099679.2:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379048.1:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379049.1:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379050.1:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012210.4:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
TRIM32-related disorder
Synonyms:
TRIM32-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004108566PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jul 10, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004108566.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TRIM32 c.1837C>T variant is predicted to result in premature protein termination (p.Arg613*). This variant was reported, in the compound heterozygous state with a TRIM32 deletion, in two presumably unrelated individuals with suspected limb-girdle muscular dystrophy (Neri et al. 2013. PubMed ID: 23541687; Johnson et al. 2019. PubMed ID: 29921608). This variant is reported in 0.060% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Note that this variant is located near the C-terminal end of the protein, and may not result in nonsense-mediated decay. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024