NM_003289.4(TPM2):c.773-9_773-8insA AND Arthrogryposis, distal, type 1A

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 10, 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:: RCV001921497.3

Allele description

NM_003289.4(TPM2):c.773-9_773-8insA

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003289.4(TPM2):c.773-9_773-8insA

HGVS:

NC_000009.12:g.35683249_35683250insT
NG_011620.1:g.11808_11809insA
NM_001301226.2:c.772+996_772+997insA
NM_001301227.2:c.773-9_773-8insA
NM_003289.4:c.773-9_773-8insAMANE SELECT
NM_213674.1:c.772+996_772+997insA
LRG_680t1:c.772+996_772+997insA
LRG_680:g.11808_11809insA
NC_000009.11:g.35683246_35683247insT

Links:

dbSNP: rs756328776

NCBI 1000 Genomes Browser:

rs756328776

Molecular consequence:

NM_001301226.2:c.772+996_772+997insA - intron variant - [Sequence Ontology: SO:0001627]
NM_001301227.2:c.773-9_773-8insA - intron variant - [Sequence Ontology: SO:0001627]
NM_003289.4:c.773-9_773-8insA - intron variant - [Sequence Ontology: SO:0001627]
NM_213674.1:c.772+996_772+997insA - 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: C0220662; Orphanet: 1146; OMIM: 108120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002201720	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 10, 2023)	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

SCV002201720

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 10, 2023)

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 Invitae, SCV002201720.3

#	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: Feb 28, 2024

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