NM_003289.4(TPM2):c.269G>A (p.Arg90His) AND Congenital myopathy 23

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 8, 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:
RCV000754748.1

Allele description [Variation Report for NM_003289.4(TPM2):c.269G>A (p.Arg90His)]

NM_003289.4(TPM2):c.269G>A (p.Arg90His)

Gene:
TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_003289.4(TPM2):c.269G>A (p.Arg90His)
HGVS:
  • NC_000009.12:g.35685752C>T
  • NG_011620.1:g.9306G>A
  • NM_001301226.2:c.269G>A
  • NM_001301227.2:c.269G>A
  • NM_003289.4:c.269G>AMANE SELECT
  • NM_213674.1:c.269G>A
  • NP_001288155.1:p.Arg90His
  • NP_001288156.1:p.Arg90His
  • NP_003280.2:p.Arg90His
  • NP_998839.1:p.Arg90His
  • LRG_680t1:c.269G>A
  • LRG_680:g.9306G>A
  • LRG_680p1:p.Arg90His
  • NC_000009.11:g.35685749C>T
  • NM_001301226.1:c.269G>A
Protein change:
R90H
Links:
dbSNP: rs1563929454
NCBI 1000 Genomes Browser:
rs1563929454
Molecular consequence:
  • NM_001301226.2:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301227.2:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003289.4:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213674.1:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Congenital myopathy 23
Synonyms:
Nemaline myopathy 4; Nemaline myopathy caused by mutation in the tropomyosin 2 gene; Cap myopathy 2
Identifiers:
MONDO: MONDO:0012240; MedGen: C1836447; OMIM: 609285

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882639NeuroMeGen, Hospital Clinico Santiago de Compostela
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 8, 2018) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not 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

Details of each submission

From NeuroMeGen, Hospital Clinico Santiago de Compostela, SCV000882639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 26, 2024