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NM_000093.5(COL5A1):c.-287G>C 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:
RCV000279509.5

Allele description [Variation Report for NM_000093.5(COL5A1):c.-287G>C]

NM_000093.5(COL5A1):c.-287G>C

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.-287G>C
HGVS:
  • NC_000009.12:g.134641901G>C
  • NG_008030.1:g.5096G>C
  • NM_000093.5:c.-287G>CMANE SELECT
  • NM_001278074.1:c.-287G>C
  • LRG_737t1:c.-287G>C
  • LRG_737t2:c.-287G>C
  • LRG_737:g.5096G>C
  • NC_000009.11:g.137533747G>C
  • NM_000093.4:c.-287G>C
Links:
dbSNP: rs886063670
NCBI 1000 Genomes Browser:
rs886063670
Molecular consequence:
  • NM_000093.5:c.-287G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001278074.1:c.-287G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000478489Illumina 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, SCV000478489.2

#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