NM_003289.4(TPM2):c.564-20_564-19dup AND Arthrogryposis, distal, type 1A

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 27, 2026
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:: RCV002220138.8

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002366219	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 27, 2026)	germline	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

SCV002366219

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 27, 2026)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002366219.5

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 30, 2026

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