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NM_001369268.1(ACAN):c.7344del (p.Phe2448fs) AND Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002510235.1

Allele description [Variation Report for NM_001369268.1(ACAN):c.7344del (p.Phe2448fs)]

NM_001369268.1(ACAN):c.7344del (p.Phe2448fs)

Gene:
ACAN:aggrecan [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001369268.1(ACAN):c.7344del (p.Phe2448fs)
HGVS:
  • NC_000015.10:g.88872922del
  • NG_012794.1:g.74480del
  • NM_001135.4:c.7116del
  • NM_001369268.1:c.7344delMANE SELECT
  • NM_001411096.1:c.7116delT
  • NM_001411097.1:c.7230delT
  • NM_013227.4:c.7230del
  • NP_001126.3:p.Phe2372fs
  • NP_001356197.1:p.Phe2448fs
  • NP_001398025.1:p.Phe2372Leufs
  • NP_001398026.1:p.Phe2410Leufs
  • NP_037359.3:p.Phe2410fs
  • NC_000015.9:g.89416153del
  • NM_013227.3:c.7230delT
Protein change:
F2372fs
Molecular consequence:
  • NM_001135.4:c.7116del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369268.1:c.7344del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001411096.1:c.7116delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001411097.1:c.7230delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013227.4:c.7230del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)
Identifiers:
MONDO: MONDO:0100462; MedGen: C3665488; OMIM: 165800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002819138H. Huang Group, Central South University
no assertion criteria provided
Likely pathogenic
(Jan 10, 2023) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.

Xu D, Sun C, Zhou Z, Wu B, Yang L, Chang Z, Zhang M, Xi L, Cheng R, Ni J, Luo F.

BMC Med Genet. 2018 May 16;19(1):79. doi: 10.1186/s12881-018-0591-z.

PubMed [citation]
PMID:
29769040
PMCID:
PMC5956957

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response.

Muthuvel G, Dauber A, Alexandrou E, Tyzinski L, Andrew M, Hwa V, Backeljauw P.

J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2103-e2109. doi: 10.1210/clinem/dgab904.

PubMed [citation]
PMID:
34922359
PMCID:
PMC9432476

Details of each submission

From H. Huang Group, Central South University, SCV002819138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023