NM_000093.5(COL5A1):c.1882-5del AND Ehlers-Danlos syndrome, classic type

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Oct 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000547040.2

Allele description [Variation Report for NM_000093.5(COL5A1):c.1882-5del]

NM_000093.5(COL5A1):c.1882-5del

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.1882-5del
HGVS:
  • NC_000009.12:g.134758238del
  • NG_008030.1:g.121433del
  • NM_000093.5:c.1882-5delMANE SELECT
  • NM_001278074.1:c.1882-5del
  • LRG_737t2:c.1882-5del
  • LRG_737:g.121433del
  • NC_000009.11:g.137650084del
  • NC_000009.11:g.137650084delT
  • NM_000093.4:c.1882-5delT
Links:
dbSNP: rs1554793544
NCBI 1000 Genomes Browser:
rs1554793544
Molecular consequence:
  • NM_000093.5:c.1882-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278074.1:c.1882-5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ehlers-Danlos syndrome, classic type (cEDS)
Synonyms:
EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome type 1 (formerly)
Identifiers:
MONDO: MONDO:0007522; MedGen: C4225429; Orphanet: 287

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000631459Invitaecriteria provided, single submitter
Uncertain significance
(Jan 4, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001472241ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Oct 2, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000631459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001472241.1

#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: Feb 3, 2021

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