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NM_000093.5(COL5A1):c.*1047_*1049dup AND Ehlers-Danlos syndrome type 7A

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:
RCV000332339.5

Allele description [Variation Report for NM_000093.5(COL5A1):c.*1047_*1049dup]

NM_000093.5(COL5A1):c.*1047_*1049dup

Genes:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]
Variant type:
Duplication
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.*1047_*1049dup
HGVS:
  • NC_000009.12:g.134843350_134843352dup
  • NG_008030.1:g.206545_206547dup
  • NM_000093.5:c.*1047_*1049dupMANE SELECT
  • NM_001278074.1:c.*1047_*1049dup
  • LRG_737t2:c.*1047_*1049dup
  • LRG_737:g.206545_206547dup
  • NC_000009.11:g.137735196_137735198dup
  • NM_000093.4:c.*1047_*1049dupATT
Links:
dbSNP: rs886063686
NCBI 1000 Genomes Browser:
rs886063686
Molecular consequence:
  • NM_000093.5:c.*1047_*1049dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001278074.1:c.*1047_*1049dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Ehlers-Danlos syndrome type 7A
Identifiers:
MONDO: MONDO:0020521; MedGen: C3508773

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000478630Illumina 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, SCV000478630.2

#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: Apr 9, 2023