NM_004260.3(RECQL4):c.1573del (p.Cys525fs) AND B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)

Clinical significance:Pathogenic (Last evaluated: Jan 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761024.1

Allele description [Variation Report for NM_004260.3(RECQL4):c.1573del (p.Cys525fs)]

NM_004260.3(RECQL4):c.1573del (p.Cys525fs)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.3(RECQL4):c.1573del (p.Cys525fs)
HGVS:
  • NC_000008.11:g.144514983del
  • NG_016430.1:g.7844del
  • NG_033083.1:g.2019del
  • AB026546.1:g.2886del
  • NC_000008.10:g.145740367del
  • NM_004260.3:c.1573delT
Note:
NCBI staff reviewed the sequence information reported in PubMed 10678659 Fig. 3B to determine the location of this allele on the current reference sequence.
Links:
OMIM: 603780.0005; dbSNP: rs386833845
NCBI 1000 Genomes Browser:
rs386833845

Condition(s)

Name:
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
Synonyms:
B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
Identifiers:
MedGen: C2698314

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890939St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Pathogenic
(Jan 15, 2016)
germlineclinical testing

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

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 St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV000890939.1

#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: Oct 6, 2021

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