NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) AND Cleidocranial dysostosis

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987708.1

Allele description [Variation Report for NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)]

NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)

Genes:
RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]
Variant type:
Microsatellite
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
HGVS:
  • NC_000006.11:g.45390514_45390531delGGCGGCTGCGGCGGCGGC
  • NC_000006.12:g.45422759GGCGGCTGCGGCGGCGGC[1]
  • NG_008020.2:g.99443GGCGGCTGCGGCGGCGGC[1]
  • NG_052657.1:g.181GGCGGCTGCGGCGGCGGC[1]
  • NM_001015051.4:c.225GGCGGCTGCGGCGGCGGC[1]
  • NM_001024630.4:c.225GGCGGCTGCGGCGGCGGC[1]MANE SELECT
  • NM_001278478.2:c.183GGCGGCTGCGGCGGCGGC[1]
  • NM_001369405.1:c.183GGCGGCTGCGGCGGCGGC[1]
  • NP_001015051.3:p.Ala84_Ala89del
  • NP_001019801.3:p.Ala84_Ala89del
  • NP_001265407.1:p.Ala70_Ala75del
  • NP_001356334.1:p.Ala70_Ala75del
  • NC_000006.11:g.45390487_45390504del
  • NC_000006.11:g.45390487_45390504delGGCGGCGGCGGCGGCTGC
  • NC_000006.11:g.45390496GGCGGCTGCGGCGGCGGC[1]
  • NC_000006.11:g.45390514_45390531delGGCGGCTGCGGCGGCGGC
  • NM_001024630.3:c.243_260del
  • NM_001024630.3:c.243_260delGGCGGCTGCGGCGGCGGC
Links:
dbSNP: rs11498192
NCBI 1000 Genomes Browser:
rs11498192
Molecular consequence:
  • NM_001015051.4:c.225GGCGGCTGCGGCGGCGGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001024630.4:c.225GGCGGCTGCGGCGGCGGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001278478.2:c.183GGCGGCTGCGGCGGCGGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369405.1:c.183GGCGGCTGCGGCGGCGGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137128Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137128.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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