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NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) AND TRIM32-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 22, 2023
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:
RCV003904817.2

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004718540PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Nov 22, 2023) 		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, SCV004718540.2

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

Description

The TRIM32 c.388C>T variant is predicted to result in the amino acid substitution p.Pro130Ser. In a consanguineous family, this variant was reported in the homozygous state in multiple individuals with Bardet-Biedl syndrome (Chiang et al. 2006. PubMed ID: 16606853). Zebrafish studies suggest this variant may affect protein function (Chiang et al. 2006. PubMed ID: 16606853; Zaghloul et al. 2010. PubMed ID: 20498079). This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-119460409-C-T). This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024