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NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) AND Cleidocranial dysostosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 23, 2020
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:
RCV001268933.2

Allele description [Variation Report for NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs)]

NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs)

Genes:
RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]
Variant type:
Indel
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs)
HGVS:
  • NC_000006.12:g.45422737delinsCG
  • NG_008020.2:g.99421delinsCG
  • NG_052657.1:g.159delinsCG
  • NM_001015051.4:c.203delinsCG
  • NM_001024630.4:c.203delinsCGMANE SELECT
  • NM_001278478.2:c.161delinsCG
  • NM_001369405.1:c.161delinsCG
  • NP_001015051.3:p.Gln68fs
  • NP_001019801.3:p.Gln68fs
  • NP_001265407.1:p.Gln54fs
  • NP_001356334.1:p.Gln54fs
  • NC_000006.11:g.45390474delinsCG
  • NM_001024630.4:c.203delAinsCGMANE SELECT
Protein change:
Q54fs
Links:
dbSNP: rs1798243790
NCBI 1000 Genomes Browser:
rs1798243790
Molecular consequence:
  • NM_001015051.4:c.203delinsCG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001024630.4:c.203delinsCG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278478.2:c.161delinsCG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369405.1:c.161delinsCG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Cleidocranial dysostosis (CLCD1)
Synonyms:
Marie-Sainton disease; CLEIDOCRANIAL DYSPLASIA 1; Cleidocranial Dysplasia
Identifiers:
MONDO: MONDO:0007340; MedGen: C0008928; Orphanet: 1452; OMIM: 119600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001335539Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Likely pathogenic
(May 23, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO.

Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13.

PubMed [citation]
PMID:
33987976

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV001335539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

Segregates in family

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023