NM_005032.6(PLS3):c.321T>A (p.Gly107=) AND Bone mineral density quantitative trait locus 18

Clinical significance:association (Last evaluated: Oct 17, 2013)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000074381.2

Allele description

NM_005032.6(PLS3):c.321T>A (p.Gly107=)

Gene:
PLS3:plastin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_005032.6(PLS3):c.321T>A (p.Gly107=)
HGVS:
  • NC_000023.11:g.115629281T>A
  • NG_012518.2:g.73403T>A
  • NM_005032.6:c.321T>A
  • NP_005023.2:p.Gly107=
  • NC_000023.10:g.114863593T>A
Links:
OMIM: 300131.0003; dbSNP: rs140121121
GMAF:
0.0061(A), 140121121
NCBI 1000 Genomes Browser:
rs140121121
Allele Frequency:
0.0103, GO-ESP
Molecular consequence:
  • NM_005032.6:c.321T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Bone mineral density quantitative trait locus 18 (BMND18)
Synonyms:
OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO
Identifiers:
MedGen: C3806712; Orphanet: 391330; OMIM: 300910

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000105988OMIMno assertion criteria providedassociation
(Oct 17, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

PLS3 mutations in X-linked osteoporosis with fractures.

van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, et al.

N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24088043

Details of each submission

From OMIM, SCV000105988.1

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

Description

In 5 male patients with osteoporosis and osteoporotic fractures (BMND18; 300910), van Dijk et al. (2013) identified a c.321T-A transversion in exon 4b of the PLS3 gene (rs140121121). In 2 cohorts of the prospective, population-based Rotterdam Study for which fracture information was available, the variant was associated with a 2-fold increased risk of fracture among elderly heterozygous women compared to noncarriers.

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

Last Updated: Sep 5, 2017