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NM_001369268.1(ACAN):c.132del (p.Thr45fs) AND Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003314414.1

Allele description [Variation Report for NM_001369268.1(ACAN):c.132del (p.Thr45fs)]

NM_001369268.1(ACAN):c.132del (p.Thr45fs)

Gene:
ACAN:aggrecan [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001369268.1(ACAN):c.132del (p.Thr45fs)
HGVS:
  • NC_000015.10:g.88838724del
  • NG_012794.1:g.40282del
  • NM_001135.4:c.132del
  • NM_001369268.1:c.132delMANE SELECT
  • NM_001411096.1:c.132del
  • NM_001411097.1:c.132del
  • NM_013227.4:c.132del
  • NP_001126.3:p.Thr45fs
  • NP_001356197.1:p.Thr45fs
  • NP_001398025.1:p.Thr45fs
  • NP_001398026.1:p.Thr45fs
  • NP_037359.3:p.Thr45fs
  • NC_000015.9:g.89381955del
Protein change:
T45fs
Molecular consequence:
  • NM_001135.4:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369268.1:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001411096.1:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001411097.1:c.132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013227.4:c.132del - 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
SCV0040137403billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From 3billion, SCV004013740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024