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NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) AND Acute megakaryoblastic leukemia in down syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2020
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:
RCV001293761.1

Allele description [Variation Report for NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)]

NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)

Gene:
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
HGVS:
  • NC_000017.11:g.31988442AG[2]
  • NG_009237.1:g.56418AG[2]
  • NM_001321207.2:c.1081_1082del
  • NM_015355.2:c.1150_1151del
  • NM_015355.4:c.1150_1151delMANE SELECT
  • NP_001308136.1:p.Leu362fs
  • NP_056170.2:p.Leu385fs
  • NC_000017.10:g.30315461AG[2]
  • NM_015355.3:c.1150_1151delAG
Protein change:
L362fs
Links:
dbSNP: rs1909527513
NCBI 1000 Genomes Browser:
rs1909527513
Molecular consequence:
  • NM_001321207.2:c.1081_1082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015355.4:c.1150_1151del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Acute megakaryoblastic leukemia in down syndrome
Identifiers:
MONDO: MONDO:0020526; MedGen: CN207426

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480514Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(AMP Guidelines, 2017)		Likely pathogenic
(Sep 1, 2020) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]
PMID:
27993330
PMCID:
PMC5707196

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV001480514.1

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

Last Updated: Nov 25, 2023