NM_006757.3(TNNT3):c.-177dup AND Arthrogryposis multiplex congenita distal

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000352685.14

Allele description [Variation Report for NM_006757.3(TNNT3):c.-177dup]

NM_006757.3(TNNT3):c.-177dup

Gene:

TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_006757.3(TNNT3):c.-177dup

HGVS:

NC_000011.10:g.1919604dup
NM_001042780.2:c.-177dup
NM_001042781.2:c.-177dup
NM_001042782.2:c.-177dup
NM_001297646.1:c.-435dup
NM_001363561.1:c.-177dup
NM_006757.3:c.-177dup
NC_000011.9:g.1940834dup
NM_006757.3:c.-177dupC

Links:

dbSNP: rs886048104

NCBI 1000 Genomes Browser:

rs886048104

Condition(s)

Name:: Arthrogryposis multiplex congenita distal
Identifiers:

Recent activity

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semaphorin-3D [Vulpes lagopus]
semaphorin-3D [Vulpes lagopus]
gi|2044122747|ref|XP_041579143.1|

Protein
Puccinia emaculata voucher PUR 18673 large subunit ribosomal RNA gene, partial s...
Puccinia emaculata voucher PUR 18673 large subunit ribosomal RNA gene, partial sequence
gi|1440599820|gb|MH704516.1|

Nucleotide
Puccinia pammelii voucher PUR 50594 large subunit ribosomal RNA gene, partial se...
Puccinia pammelii voucher PUR 50594 large subunit ribosomal RNA gene, partial sequence
gi|1440599822|gb|MH704518.1|

Nucleotide
RecName: Full=Small ribosomal subunit protein bS21; AltName: Full=30S ribosomal ...
RecName: Full=Small ribosomal subunit protein bS21; AltName: Full=30S ribosomal protein S21
gi|226695066|sp|B2SLA2.1|RS21_XANOP

Protein
Garcinia
Garcinia
A plant genus of the family CLUSIACEAE. Members contain XANTHONES.<br/>Year introduced: 2002

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000369753	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000369753

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000369753.2

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

#	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: Nov 10, 2024

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