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NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) AND Inherited bleeding disorder, platelet-type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2019
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:
RCV001270105.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)]

NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)

Genes:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
RUNX1-AS1:RUNX1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)
Other names:
NM_001754.4(RUNX1):c.497G>A
HGVS:
  • NC_000021.9:g.34880568C>T
  • NG_011402.2:g.1109144G>A
  • NM_001001890.3:c.416G>A
  • NM_001122607.2:c.416G>A
  • NM_001754.5:c.497G>AMANE SELECT
  • NP_001001890.1:p.Arg139Gln
  • NP_001116079.1:p.Arg139Gln
  • NP_001745.2:p.Arg166Gln
  • NP_001745.2:p.Arg166Gln
  • LRG_482t1:c.497G>A
  • LRG_482:g.1109144G>A
  • LRG_482p1:p.Arg166Gln
  • NC_000021.8:g.36252865C>T
  • NM_001754.4:c.497G>A
  • p.Arg166Gln
Protein change:
R139Q
Links:
dbSNP: rs1060499616
NCBI 1000 Genomes Browser:
rs1060499616
Molecular consequence:
  • NM_001001890.3:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inherited bleeding disorder, platelet-type
Synonyms:
Platelet disorder; Platelet-type bleeding disorder
Identifiers:
MONDO: MONDO:0000009; MeSH: D001791; MedGen: C0005818; OMIM: PS231200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448936Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 4, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448936.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024