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NM_001369268.1(ACAN):c.293_315del (p.Ser98fs) 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:
Feb 16, 2022
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:
RCV001838834.2

Allele description [Variation Report for NM_001369268.1(ACAN):c.293_315del (p.Ser98fs)]

NM_001369268.1(ACAN):c.293_315del (p.Ser98fs)

Gene:
ACAN:aggrecan [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001369268.1(ACAN):c.293_315del (p.Ser98fs)
HGVS:
  • NC_000015.10:g.88838885_88838907del
  • NG_012794.1:g.40443_40465del
  • NM_001135.4:c.293_315del
  • NM_001369268.1:c.293_315delMANE SELECT
  • NM_013227.4:c.293_315del
  • NP_001126.3:p.Ser98fs
  • NP_001356197.1:p.Ser98fs
  • NP_037359.3:p.Ser98fs
  • NC_000015.9:g.89382116_89382138del
Protein change:
S98fs
Links:
dbSNP: rs2141563800
NCBI 1000 Genomes Browser:
rs2141563800
Molecular consequence:
  • NM_001135.4:c.293_315del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369268.1:c.293_315del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013227.4:c.293_315del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098371Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 16, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Institute of Human Genetics, University Hospital Muenster, SCV002098371.1

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

Description

ACMG categories: PVS1,PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Dec 24, 2023