NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg) AND Geleophysic dysplasia 1

Clinical significance:Pathogenic (Last evaluated: Apr 19, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000000731.1

Allele description

NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg)

Gene:
ADAMTSL2:ADAMTS like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg)
HGVS:
  • NC_000009.12:g.133570346G>A
  • NG_009931.1:g.43183G>A
  • NM_001145320.1:c.2431G>A
  • NP_001138792.1:p.Gly811Arg
  • NC_000009.11:g.136435468G>A
Protein change:
E811R; GLU811ARG
Links:
OMIM: 612277.0004; dbSNP: rs113994124
NCBI 1000 Genomes Browser:
rs113994124
Molecular consequence:
  • NM_001145320.1:c.2431G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Geleophysic dysplasia 1 (GPHYSD1)
Synonyms:
Geleophysic dysplasia
Identifiers:
MedGen: CN074292; Orphanet: 2623; OMIM: 231050
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 2623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000020881OMIMno assertion criteria providedPathogenic
(Sep 1, 2008)
germlineliterature only

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

SCV000040837GeneReviewsno assertion criteria providedpathologic
(Apr 19, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.

PubMed [citation]
PMID:
18677313
PMCID:
PMC2675613

Details of each submission

From OMIM, SCV000020881.1

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

Description

In a French child with geleophysic dysplasia-1 (231050) from a nonconsanguineous family, Le Goff et al. (2008) identified compound heterozygosity for mutations in exon 16 of the ADAMTSL2 gene. One allele carried a G-to-A transition at nucleotide 2431, leading to a gly-to-arg substitution at codon 811 (G811R). The other allele carried a nonsense mutation (612277.0005).

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

From GeneReviews, SCV000040837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 19, 2016