NM_003289.4(TPM2):c.564-20_564-19dup AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 6, 2022
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:: RCV002498233.1

Allele description [Variation Report for NM_003289.4(TPM2):c.564-20_564-19dup]

NM_003289.4(TPM2):c.564-20_564-19dup

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003289.4(TPM2):c.564-20_564-19dup

HGVS:

NC_000009.12:g.35684832_35684833dup
NG_011620.1:g.10231_10232dup
NM_001301226.2:c.564-20_564-19dup
NM_001301227.2:c.639+237_639+238dup
NM_003289.4:c.564-20_564-19dupMANE SELECT
NM_213674.1:c.639+237_639+238dup
LRG_680t1:c.639+237_639+238dup
LRG_680:g.10231_10232dup
NC_000009.11:g.35684822_35684823insGG
NC_000009.11:g.35684829_35684830dup

Links:

dbSNP: rs3215700

Molecular consequence:

NM_001301226.2:c.564-20_564-19dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001301227.2:c.639+237_639+238dup - intron variant - [Sequence Ontology: SO:0001627]
NM_003289.4:c.564-20_564-19dup - intron variant - [Sequence Ontology: SO:0001627]
NM_213674.1:c.639+237_639+238dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Arthrogryposis, distal, type 1A
Synonyms:: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
Identifiers:: MONDO: MONDO:0007157; MedGen: C6022280; Orphanet: 1146; OMIM: 108120

Name:: Congenital myopathy 23 (CMYO23)
Synonyms:: NEMALINE MYOPATHY 4; CAP MYOPATHY 2; Nemaline myopathy 4, autosomal dominant
Identifiers:: MONDO: MONDO:0012240; MedGen: C1836447; OMIM: 609285

Name:: Congenital myopathy with fiber type disproportion
Synonyms:: Congenital fiber-type disproportion myopathy; Congenital fiber-type disproportion
Identifiers:: MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002809297	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 6, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002809297

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 6, 2022)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002809297.1

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

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

Last Updated: May 30, 2026

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