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NM_025237.3(SOST):c.296dup (p.Val100fs) AND Sclerosteosis 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001843446.2

Allele description [Variation Report for NM_025237.3(SOST):c.296dup (p.Val100fs)]

NM_025237.3(SOST):c.296dup (p.Val100fs)

Gene:
SOST:sclerostin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_025237.3(SOST):c.296dup (p.Val100fs)
HGVS:
  • NC_000017.11:g.43755689dup
  • NG_008078.2:g.8101dup
  • NM_025237.3:c.296dupMANE SELECT
  • NP_079513.1:p.Val100fs
  • LRG_852t1:c.296dup
  • LRG_852:g.8101dup
  • LRG_852p1:p.Val100fs
  • NC_000017.10:g.41833057dup
  • NM_025237.2:c.296dupC
Protein change:
V100fs
Links:
dbSNP: rs1974122996
NCBI 1000 Genomes Browser:
rs1974122996
Molecular consequence:
  • NM_025237.3:c.296dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Sclerosteosis 1 (SOST1)
Synonyms:
CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
Identifiers:
MONDO: MONDO:0010016; MedGen: C4551483; Orphanet: 3152; OMIM: 269500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002102593GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Novel SOST gene mutation in a sclerosteosis patient and her parents.

Bhadada SK, Rastogi A, Steenackers E, Boudin E, Arya A, Dhiman V, Bhansali A, Van Hul W.

Bone. 2013 Feb;52(2):707-10. doi: 10.1016/j.bone.2012.10.009. Epub 2012 Oct 16.

PubMed [citation]
PMID:
23079137

Details of each submission

From GeneReviews, SCV002102593.2

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

Last Updated: Apr 6, 2024