NM_012210.4(TRIM32):c.484del (p.Glu162fs) AND Bardet-Biedl syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 13, 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:: RCV003078324.2

Allele description

NM_012210.4(TRIM32):c.484del (p.Glu162fs)

Genes:

ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q33.1

Genomic location:

Preferred name:

NM_012210.4(TRIM32):c.484del (p.Glu162fs)

HGVS:

NC_000009.12:g.116698226del
NG_011619.1:g.15925del
NG_021409.2:g.721836del
NM_001099679.2:c.484del
NM_001365068.1:c.2806+27549delMANE SELECT
NM_001365069.1:c.2794+27549del
NM_001379048.1:c.484del
NM_001379049.1:c.484del
NM_001379050.1:c.484del
NM_012210.4:c.484delMANE SELECT
NM_014010.5:c.2653+27549del
NP_001093149.1:p.Glu162fs
NP_001365977.1:p.Glu162fs
NP_001365978.1:p.Glu162fs
NP_001365979.1:p.Glu162fs
NP_036342.2:p.Glu162Serfs
NP_036342.2:p.Glu162fs
LRG_211t1:c.484del
LRG_211:g.15925del
LRG_211p1:p.Glu162Serfs
NC_000009.11:g.119460501del
NC_000009.11:g.119460505del
NM_012210.3:c.484delG

Protein change:

E162fs

Molecular consequence:

NM_001099679.2:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379048.1:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379049.1:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379050.1:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012210.4:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365068.1:c.2806+27549del - intron variant - [Sequence Ontology: SO:0001627]
NM_001365069.1:c.2794+27549del - intron variant - [Sequence Ontology: SO:0001627]
NM_014010.5:c.2653+27549del - intron variant - [Sequence Ontology: SO:0001627]

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003471206	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 13, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30823891, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003471206

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 13, 2023)

germline

clinical testing

PubMed (2)
[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

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C.

Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9.

PubMed [citation]

PMID:: 30823891
PMCID:: PMC6396567

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003471206.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Glu162Serfs*60) in the TRIM32 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 492 amino acid(s) of the TRIM32 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. ClinVar contains an entry for this variant (Variation ID: 2157886). This variant disrupts a region of the TRIM32 protein in which other variant(s) (p.Val591Met) have been determined to be pathogenic (PMID: 30823891). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 1, 2024

ClinVar

Relating variation to medicine