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:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000369753Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000369753.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024