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NM_001024630.4(RUNX2):c.236C>T (p.Ala79Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 2024
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:
RCV004447046.1

Allele description [Variation Report for NM_001024630.4(RUNX2):c.236C>T (p.Ala79Val)]

NM_001024630.4(RUNX2):c.236C>T (p.Ala79Val)

Genes:
RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001024630.4(RUNX2):c.236C>T (p.Ala79Val)
HGVS:
  • NC_000006.12:g.45422770C>T
  • NG_008020.2:g.99454C>T
  • NG_052657.1:g.192C>T
  • NM_001015051.4:c.236C>T
  • NM_001024630.4:c.236C>TMANE SELECT
  • NM_001278478.2:c.194C>T
  • NM_001369405.1:c.194C>T
  • NM_004348.3:c.194C>T
  • NP_001015051.3:p.Ala79Val
  • NP_001019801.3:p.Ala79Val
  • NP_001265407.1:p.Ala65Val
  • NP_001356334.1:p.Ala65Val
  • NP_004339.3:p.Ala65Val
  • NC_000006.11:g.45390507C>T
  • NM_001024630.3:c.236C>T
Protein change:
A65V
Molecular consequence:
  • NM_001015051.4:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001024630.4:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278478.2:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369405.1:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004348.3:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004944172Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 3, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004944172.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.236C>T (p.A79V) alteration is located in exon 3 (coding exon 2) of the RUNX2 gene. This alteration results from a C to T substitution at nucleotide position 236, causing the alanine (A) at amino acid position 79 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024