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NM_001754.5(RUNX1):c.303G>T (p.Val101=) AND Acute myeloid leukemia

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 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:
RCV003316252.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.303G>T (p.Val101=)]

NM_001754.5(RUNX1):c.303G>T (p.Val101=)

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.303G>T (p.Val101=)
Other names:
NM_001754.5(RUNX1):c.303G>T; p.Val101=
HGVS:
  • NC_000021.9:g.34886891C>A
  • NG_011402.2:g.1102821G>T
  • NM_001001890.3:c.222G>T
  • NM_001122607.2:c.222G>T
  • NM_001754.5:c.303G>TMANE SELECT
  • NP_001001890.1:p.Val74=
  • NP_001116079.1:p.Val74=
  • NP_001745.2:p.Val101=
  • NP_001745.2:p.Val101=
  • LRG_482t1:c.303G>T
  • LRG_482:g.1102821G>T
  • LRG_482p1:p.Val101=
  • NC_000021.8:g.36259188C>A
  • NM_001754.4:c.303G>T
Links:
dbSNP: rs142472642
NCBI 1000 Genomes Browser:
rs142472642
Molecular consequence:
  • NM_001001890.3:c.222G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001122607.2:c.222G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001754.5:c.303G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015361KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015361.1

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

Last Updated: Sep 29, 2024