NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765505.1

Allele description [Variation Report for NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)]

NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)

Gene:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)
HGVS:
  • NC_000021.9:g.34834566C>T
  • NG_011402.2:g.1155146G>A
  • NM_001001890.3:c.568G>A
  • NM_001122607.2:c.568G>A
  • NM_001754.4:c.649G>A
  • NP_001001890.1:p.Gly190Arg
  • NP_001116079.1:p.Gly190Arg
  • NP_001745.2:p.Gly217Arg
  • LRG_482t1:c.649G>A
  • LRG_482:g.1155146G>A
  • LRG_482p1:p.Gly217Arg
  • NC_000021.8:g.36206863C>T
Protein change:
G190R
Links:
dbSNP: rs749004431
NCBI 1000 Genomes Browser:
rs749004431
Molecular consequence:
  • NM_001001890.3:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.4:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial platelet disorder with associated myeloid malignancy (FPDMM)
Synonyms:
Platelet disorder, Aspirin-like; Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100083; MedGen: C1832388; Orphanet: 71290; OMIM: 601399
Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896808Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000896808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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