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NM_152263.4(TPM3):c.377+863_775+422del AND Congenital myopathy 4B, autosomal recessive

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001251175.1

Allele description [Variation Report for NM_152263.4(TPM3):c.377+863_775+422del]

NM_152263.4(TPM3):c.377+863_775+422del

Gene:
TPM3:tropomyosin 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_152263.4(TPM3):c.377+863_775+422del
HGVS:
  • NC_000001.11:g.154169979_154175253del
  • NG_008621.1:g.21882_27156del
  • NM_001043351.2:c.266+863_664+422del
  • NM_001043352.2:c.266+863_664+422del
  • NM_001043353.2:c.266+863_664+422del
  • NM_001278188.2:c.69-2051_466+422del
  • NM_001278189.2:c.266+863_664+422del
  • NM_001278190.2:c.266+863_601+422del
  • NM_001278191.2:c.-5+863_394+422del
  • NM_001349679.2:c.266+863_664+422del
  • NM_001364679.2:c.377+863_775+422del
  • NM_001364680.2:c.377+863_775+422del
  • NM_001364681.2:c.377+863_775+422del
  • NM_001364682.1:c.377+863_775+422del
  • NM_001364683.1:c.266+863_664+422del
  • NM_152263.4:c.377+863_775+422delMANE SELECT
  • NM_153649.4:c.266+863_664+422del
  • LRG_681t1:c.266+863_664+422del
  • LRG_681t2:c.377+863_775+422del
  • LRG_681t3:c.266+863_664+422del
  • LRG_681:g.21882_27156del
  • NC_000001.10:g.154142455_154147729del
  • NM_152263.2:c.377+863_775+422del
Molecular consequence:
  • NM_001278191.2:c.-5+863_394+422del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001043351.2:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001043352.2:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001043353.2:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278188.2:c.69-2051_466+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278189.2:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278190.2:c.266+863_601+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278191.2:c.-5+863_394+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001349679.2:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001364679.2:c.377+863_775+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001364680.2:c.377+863_775+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001364681.2:c.377+863_775+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001364682.1:c.377+863_775+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001364683.1:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_152263.4:c.377+863_775+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_153649.4:c.266+863_664+422del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001043351.2:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001043352.2:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001043353.2:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278188.2:c.69-2051_466+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278189.2:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278190.2:c.266+863_601+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278191.2:c.-5+863_394+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349679.2:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001364679.2:c.377+863_775+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001364680.2:c.377+863_775+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001364681.2:c.377+863_775+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001364682.1:c.377+863_775+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001364683.1:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_152263.4:c.377+863_775+422del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153649.4:c.266+863_664+422del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Congenital myopathy 4B, autosomal recessive
Synonyms:
Nemaline myopathy caused by mutation in the tropomyosin 3 gene; Nemaline myopathy 1, autosomal dominant or recessive
Identifiers:
MONDO: MONDO:0012239; MedGen: C5829889; Orphanet: 171433; Orphanet: 171439; Orphanet: 171881; OMIM: 609284

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426522Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, et al.

Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.

PubMed [citation]
PMID:
32860008
PMCID:
PMC7852664

Details of each submission

From Centogene AG - the Rare Disease Company, SCV001426522.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024