U.S. flag

An official website of the United States government

NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg) AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 11, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001290711.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg)]

NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg)

Gene:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg)
HGVS:
  • NC_000021.9:g.34886989C>G
  • NG_011402.2:g.1102723G>C
  • NM_001001890.3:c.124G>C
  • NM_001122607.2:c.124G>C
  • NM_001754.5:c.205G>CMANE SELECT
  • NP_001001890.1:p.Gly42Arg
  • NP_001116079.1:p.Gly42Arg
  • NP_001745.2:p.Gly69Arg
  • NP_001745.2:p.Gly69Arg
  • LRG_482t1:c.205G>C
  • LRG_482:g.1102723G>C
  • LRG_482p1:p.Gly69Arg
  • NC_000021.8:g.36259286C>G
  • NM_001754.4:c.205G>C
Protein change:
G42R
Links:
dbSNP: rs777168865
NCBI 1000 Genomes Browser:
rs777168865
Molecular consequence:
  • NM_001001890.3:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Identifiers:
MONDO: MONDO:0011071; MedGen: CN281654

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478848ClinGen Myeloid Malignancy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen MyeloMalig ACMG Specifications v1)		Benign
(Jan 11, 2021) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia.

Harada H, Harada Y, Tanaka H, Kimura A, Inaba T.

Blood. 2003 Jan 15;101(2):673-80. Epub 2002 Sep 5.

PubMed [citation]
PMID:
12393679

RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

Koh CP, Wang CQ, Ng CE, Ito Y, Araki M, Tergaonkar V, Huang G, Osato M.

Leukemia. 2013 Sep;27(9):1793-802. doi: 10.1038/leu.2013.200. Epub 2013 Jul 2. Review.

PubMed [citation]
PMID:
23817177

Details of each submission

From ClinGen Myeloid Malignancy Variant Curation Expert Panel, SCV001478848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The NM_001754.4:c.205G>C variant that results in a Gly69Arg missense change has an MAF of 0.0003133 (0.03%, 6/19148 alleles) in the East Asian subpopulation of the gnomAD v2.1.1 cohort, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). Transactivation assays demonstrate normal transactivation as wild-type and normal DNA binding (BS3; PMIDs: 23817177 & 12393679). The variant has not been reported in the germ line of patients with familial platelet disorder with predisposition to hematologic malignancies in the literature, to the best of our knowledge. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1, BS3.

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

Last Updated: Sep 29, 2024