U.S. flag

An official website of the United States government

NM_152263.4(TPM3):c.26T>G (p.Met9Arg) AND Congenital myopathy 4B, autosomal recessive

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000013259.20

Allele description [Variation Report for NM_152263.4(TPM3):c.26T>G (p.Met9Arg)]

NM_152263.4(TPM3):c.26T>G (p.Met9Arg)

Gene:
TPM3:tropomyosin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)
HGVS:
  • NC_000001.11:g.154191993A>C
  • NG_008621.1:g.5141T>G
  • NM_001364679.2:c.26T>G
  • NM_001364680.2:c.26T>G
  • NM_001364681.2:c.26T>G
  • NM_001364682.1:c.26T>G
  • NM_152263.4:c.26T>GMANE SELECT
  • NP_001351608.1:p.Met9Arg
  • NP_001351609.1:p.Met9Arg
  • NP_001351610.1:p.Met9Arg
  • NP_001351611.1:p.Met9Arg
  • NP_689476.2:p.Met9Arg
  • LRG_681t2:c.26T>G
  • LRG_681:g.5141T>G
  • LRG_681p2:p.Met9Arg
  • NC_000001.10:g.154164469A>C
  • NM_152263.2:c.26T>G
  • NR_103460.2:n.108T>G
  • P06753:p.Met9Arg
Protein change:
M9R; MET9ARG
Links:
UniProtKB: P06753#VAR_013460; OMIM: 191030.0001; dbSNP: rs80358247
NCBI 1000 Genomes Browser:
rs80358247
Molecular consequence:
  • NM_001364679.2:c.26T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364680.2:c.26T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364681.2:c.26T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364682.1:c.26T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152263.4:c.26T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103460.2:n.108T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041593GeneReviews
no classification provided
not providedunknownliterature only

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

Michele DE, Albayya FP, Metzger JM.

J Clin Invest. 1999 Dec;104(11):1575-81.

PubMed [citation]
PMID:
10587521
PMCID:
PMC409864

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC.

Ann Neurol. 2005 Jan;57(1):42-9.

PubMed [citation]
PMID:
15562513
See all PubMed Citations (5)

Details of each submission

From GeneReviews, SCV000041593.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 29, 2024