NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter) AND Ehlers-Danlos syndrome, type vii, autosomal recessive

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Pathogenic(1) (Last evaluated: Oct 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000005838.2

Allele description

NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter)

Gene:
ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter)
HGVS:
  • NC_000005.10:g.179130005C>T
  • NG_023212.2:g.220324G>A
  • NM_014244.4:c.2384G>A
  • NP_055059.2:p.Trp795Ter
  • NC_000005.9:g.178557006C>T
Protein change:
W795*; TRP795TER
Links:
OMIM: 604539.0002; dbSNP: rs137853147
NCBI 1000 Genomes Browser:
rs137853147
Molecular consequence:
  • NM_014244.4:c.2384G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ehlers-Danlos syndrome, type vii, autosomal recessive (EDS7C)
Synonyms:
EDS VIIC; Ehlers-Danlos syndrome dermatosparaxis type; Dermatosparaxis
Identifiers:
MedGen: C2700425; Orphanet: 1901; OMIM: 225410

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026020OMIMno assertion criteria providedPathogenic
(Aug 1, 1999)
germlineliterature only

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

SCV000487043Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 18, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A.

Am J Med Genet A. 2004 Nov 15;131(1):18-28.

PubMed [citation]
PMID:
15389701

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV.

Am J Hum Genet. 1999 Aug;65(2):308-17.

PubMed [citation]
PMID:
10417273
PMCID:
PMC1377929

Details of each submission

From OMIM, SCV000026020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 1 of the 6 patients known to have Ehlers-Danlos syndrome type VIIC (225410), Colige et al. (1999) found homozygosity for a G-to-A transition at nucleotide 2384 of the ADAMTS2 gene, resulting in a trp795-to-ter substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000487043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 13, 2017

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