U.S. flag

An official website of the United States government

NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) AND Bardet-Biedl syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2022
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:
RCV001350863.6

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:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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
SCV001545285Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 29, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A.

Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28.

PubMed [citation]
PMID:
23541687

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium., Straub V.

Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11.

PubMed [citation]
PMID:
32528171
PMCID:
PMC7462745
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001545285.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg613*) in the TRIM32 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the TRIM32 protein. This variant is present in population databases (rs199664043, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 23541687, 32528171). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1029181). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024