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NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV003696060.2

Allele description [Variation Report for NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter)]

NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter)

Gene:
RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter)
HGVS:
  • NC_000006.12:g.45512311C>T
  • NG_008020.2:g.188995C>T
  • NM_001015051.4:c.925C>T
  • NM_001024630.3:c.925C>T
  • NM_001024630.4:c.925C>TMANE SELECT
  • NM_001278478.2:c.883C>T
  • NM_001369405.1:c.883C>T
  • NM_004348.3:c.883C>T
  • NP_001015051.3:p.Gln309Ter
  • NP_001019801.3:p.Gln309Ter
  • NP_001265407.1:p.Gln295Ter
  • NP_001356334.1:p.Gln295Ter
  • NP_004339.3:p.Gln295Ter
  • NC_000006.11:g.45480048C>T
Protein change:
Q295*
Molecular consequence:
  • NM_001015051.4:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001024630.4:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278478.2:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369405.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004348.3:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004453052Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 7, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F.

Am J Hum Genet. 1999 Nov;65(5):1268-78.

PubMed [citation]
PMID:
10521292
PMCID:
PMC1288279

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F, Kanegane H, Mundlos S.

Hum Mutat. 2002 Mar;19(3):209-16. Review.

PubMed [citation]
PMID:
11857736
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004453052.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RUNX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln309*) in the RUNX2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RUNX2 are known to be pathogenic (PMID: 10521292, 11857736).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024