NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) AND Bardet-Biedl syndrome 11

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2008
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:: RCV000007776.11

Allele description [Variation Report for NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)]

NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)

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.388C>T (p.Pro130Ser)

HGVS:

NC_000009.12:g.116698130C>T
NG_011619.1:g.15829C>T
NG_021409.2:g.721928G>A
NM_001099679.2:c.388C>T
NM_001365068.1:c.2806+27641G>AMANE SELECT
NM_001365069.1:c.2794+27641G>A
NM_001379048.1:c.388C>T
NM_001379049.1:c.388C>T
NM_001379050.1:c.388C>T
NM_012210.4:c.388C>TMANE SELECT
NM_014010.5:c.2653+27641G>A
NP_001093149.1:p.Pro130Ser
NP_001365977.1:p.Pro130Ser
NP_001365978.1:p.Pro130Ser
NP_001365979.1:p.Pro130Ser
NP_036342.2:p.Pro130Ser
NP_036342.2:p.Pro130Ser
LRG_211t1:c.388C>T
LRG_211:g.15829C>T
LRG_211p1:p.Pro130Ser
NC_000009.11:g.119460409C>T
NM_012210.3:c.388C>T
Q13049:p.Pro130Ser

Protein change:

P130S; PRO130SER

Links:

UniProtKB: Q13049#VAR_038807; OMIM: 602290.0002; dbSNP: rs111033571

NCBI 1000 Genomes Browser:

rs111033571

Molecular consequence:

NM_001365068.1:c.2806+27641G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001365069.1:c.2794+27641G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_014010.5:c.2653+27641G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001099679.2:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001379048.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001379049.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001379050.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012210.4:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome 11 (BBS11)
Identifiers:: MONDO: MONDO:0014439; MedGen: C1859569; Orphanet: 110; OMIM: 615988

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027977	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16606853, 17994549

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027977

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2008)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. Epub 2006 Apr 10.

PubMed [citation]

PMID:: 16606853
PMCID:: PMC1458870

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V.

Hum Mutat. 2008 Feb;29(2):240-7.

PubMed [citation]

PMID:: 17994549

Details of each submission

From OMIM, SCV000027977.9

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

Description

By homozygosity mapping using high-density SNP genotyping, Chiang et al. (2006) identified the TRIM32 gene as the site of mutations causing Bardet-Biedl syndrome (BBS11; 615988) in a small consanguineous Israeli Bedouin family. The specific mutation was a change of codon 130 from CCT (pro) to TCT (ser). The substitution was present in homozygous state in the affected individuals.

In vitro functional expression studies by Saccone et al. (2008) demonstrated that the P130S-mutant protein maintained self-interaction ability.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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