NC_000014.9:g.95696766_96390792dup AND Acute myeloid leukemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2015
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:: RCV000190405.3

Allele description [Variation Report for NC_000014.9:g.95696766_96390792dup]

NC_000014.9:g.95696766_96390792dup

Genes:

LOC130056381:ATAC-STARR-seq lymphoblastoid active region 8971 [Gene]
LOC130056382:ATAC-STARR-seq lymphoblastoid active region 8972 [Gene]
LOC130056383:ATAC-STARR-seq lymphoblastoid active region 8973 [Gene]
LOC130056384:ATAC-STARR-seq lymphoblastoid active region 8974 [Gene]
LOC130056385:ATAC-STARR-seq lymphoblastoid active region 8975 [Gene]
LOC130056386:ATAC-STARR-seq lymphoblastoid active region 8976 [Gene]
LOC130056388:ATAC-STARR-seq lymphoblastoid active region 8977 [Gene]
LOC130056389:ATAC-STARR-seq lymphoblastoid active region 8978 [Gene]
LOC130056390:ATAC-STARR-seq lymphoblastoid active region 8979 [Gene]
LOC130056391:ATAC-STARR-seq lymphoblastoid active region 8980 [Gene]
LOC130056394:ATAC-STARR-seq lymphoblastoid active region 8981 [Gene]
LOC130056395:ATAC-STARR-seq lymphoblastoid active region 8982 [Gene]
LOC130056396:ATAC-STARR-seq lymphoblastoid active region 8983 [Gene]
LOC130056397:ATAC-STARR-seq lymphoblastoid active region 8985 [Gene]
LOC130056387:ATAC-STARR-seq lymphoblastoid silent region 6050 [Gene]
LOC130056392:ATAC-STARR-seq lymphoblastoid silent region 6051 [Gene]
LOC130056393:ATAC-STARR-seq lymphoblastoid silent region 6052 [Gene]
LOC126862037:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 [Gene]
LOC126862038:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 [Gene]
GSKIP:GSK3B interacting protein [Gene - OMIM - HGNC]
LOC126862036:MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 [Gene]
LOC129390666:MPRA-validated peak2244 silencer [Gene]
LOC132090293:Neanderthal introgressed variant-containing enhancer experimental_38841 [Gene]
LOC132090294:Neanderthal introgressed variant-containing enhancer experimental_38870 [Gene]
LOC112272571:Sharpr-MPRA regulatory region 11883 [Gene]
TCL1A:TCL1 family AKT coactivator A [Gene - OMIM - HGNC]
ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]
BDKRB2:bradykinin receptor B2 [Gene - OMIM - HGNC]
C14orf132:chromosome 14 open reading frame 132 [Gene - HGNC]
TUNAR:transmembrane neural differentiation associated intracellular calcium regulator [Gene - OMIM - HGNC]
LOC107984703:uncharacterized LOC107984703 [Gene]

Variant type:

Duplication

Cytogenetic location:

14q32.13-32.2

Genomic location:

Preferred name:

NC_000014.9:g.95696766_96390792dup

HGVS:

NC_000014.9:g.95696766_96390792dup
NC_000014.8:g.96163103_96857129dup

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224009	INSERM UMR 1170, INSERM	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Jun 1, 2015)	germline	research	publication submitted

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224009

INSERM UMR 1170, INSERM

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Jun 1, 2015)

germline

research

publication submitted

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
West Indies	germline	yes	8	4	not provided	not provided	yes	research

Details of each submission

From INSERM UMR 1170, INSERM, SCV000224009.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	West Indies	8	not provided	yes	research	not provided

Description

overexpression of ATG2B and GSKIP enhance hematopoietic progenitor differentiation

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	blood	not provided		8	not provided	4	not provided

Last Updated: May 16, 2025

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