NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475_Thr476insIle) AND Sarcotubular myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 3, 2018
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:: RCV001004975.2

Allele description [Variation Report for NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475_Thr476insIle)]

NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475_Thr476insIle)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

9q33.1

Genomic location:

Preferred name:

NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475_Thr476insIle)

HGVS:

NC_000009.12:g.116699166_116699168dup
NG_011619.1:g.16865_16867dup
NG_021409.2:g.720891_720893dup
NM_001099679.2:c.1424_1426dup
NM_001365068.1:c.2806+26604_2806+26606dupMANE SELECT
NM_001365069.1:c.2794+26604_2794+26606dup
NM_001379048.1:c.1424_1426dup
NM_001379049.1:c.1424_1426dup
NM_001379050.1:c.1424_1426dup
NM_012210.4:c.1424_1426dupMANE SELECT
NM_014010.5:c.2653+26604_2653+26606dup
NP_001093149.1:p.Ile475_Thr476insIle
NP_001365977.1:p.Ile475_Thr476insIle
NP_001365978.1:p.Ile475_Thr476insIle
NP_001365979.1:p.Ile475_Thr476insIle
NP_036342.2:p.Ile475_Thr476insIle
NP_036342.2:p.Ile475_Thr476insIle
LRG_211t1:c.1424_1426dup
LRG_211:g.16865_16867dup
LRG_211p1:p.Ile475_Thr476insIle
NC_000009.11:g.119461445_119461447dup
NM_012210.3:c.1424_1426dup
p.Ile475dup

Links:

dbSNP: rs1588218148

NCBI 1000 Genomes Browser:

rs1588218148

Molecular consequence:

NM_001099679.2:c.1424_1426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379048.1:c.1424_1426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379049.1:c.1424_1426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379050.1:c.1424_1426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_012210.4:c.1424_1426dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001365068.1:c.2806+26604_2806+26606dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001365069.1:c.2794+26604_2794+26606dup - intron variant - [Sequence Ontology: SO:0001627]
NM_014010.5:c.2653+26604_2653+26606dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Sarcotubular myopathy (LGMDR8)
Synonyms:: Muscular dystrophy Hutterite type; Hutterite type of muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009683; MedGen: C0270968; Orphanet: 1878; OMIM: 254110

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PREDICTED: Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLR...
PREDICTED: Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), transcript variant X5, mRNA
gi|2217266363|ref|XM_006710559.5|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001164517	Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 3, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001164517

Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 3, 2018)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001164517.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

The homozygous p.Ile475dup variant in TRIM32 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). The p.Ile475dup variant in TRIM32 has not been previously reported in individuals with LGMD and was absent from large population studies. Computational tools suggest this variant will create a nearby splice site. However, this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4, PP3 (Richards 2015).

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

Last Updated: Sep 1, 2024

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