U.S. flag

An official website of the United States government

NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) AND TPM2-related myopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 6, 2023
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:
RCV003389253.1

Allele description [Variation Report for NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)]

NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)

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.782A>G (p.Tyr261Cys)
HGVS:
  • NC_000009.12:g.35683232T>C
  • NG_011620.1:g.11826A>G
  • NM_001301226.2:c.772+1014A>G
  • NM_001301227.2:c.782A>G
  • NM_003289.4:c.782A>GMANE SELECT
  • NM_213674.1:c.772+1014A>G
  • NP_001288156.1:p.Tyr261Cys
  • NP_003280.2:p.Tyr261Cys
  • LRG_680t1:c.772+1014A>G
  • LRG_680t2:c.782A>G
  • LRG_680:g.11826A>G
  • NC_000009.11:g.35683229T>C
  • NM_003289.3:c.782A>G
Protein change:
Y261C
Links:
dbSNP: rs1824676022
NCBI 1000 Genomes Browser:
rs1824676022
Molecular consequence:
  • NM_001301226.2:c.772+1014A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213674.1:c.772+1014A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301227.2:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003289.4:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

Condition(s)

Name:
TPM2-related myopathy
Identifiers:
MONDO: MONDO:0100196; MedGen: CN294818

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
SCV004101283Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(Sep 6, 2023) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, et al.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

PubMed [citation]
PMID:
24692096
PMCID:
PMC4200603

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ.

Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.

PubMed [citation]
PMID:
23401156
PMCID:
PMC3581718

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004101283.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The TPM2 c.782A>G (p.Tyr261Cys) missense variant has been identified in at least three individuals with congenital myopathy/distal arthrogryposis type 1, with at least one individual noted to have a de novo occurrence of the variant (PMID: 23401156; 24692096). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Computational evidence suggests the variant may impact the gene or gene product. This variant has been shown to segregate with disease. Based on the available evidence, the c.782A>G (p.Tyr261Cys) variant is classified as likely pathogenic for TPM2-related myopathy.

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

Last Updated: Jan 26, 2024