U.S. flag

An official website of the United States government

NC_000014.9:g.95696766_96390792dup AND Thrombocythemia 1

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:
RCV000190403.3

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:
Thrombocythemia 1 (THCYT1)
Synonyms:
THROMBOCYTOSIS 1; THROMBOCYTHEMIA, SOMATIC
Identifiers:
MONDO: MONDO:0008554; MedGen: C3277671; OMIM: 187950

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224007INSERM UMR 1170, INSERM
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Jun 1, 2015) 		germlineresearch

publication submitted

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
West Indiesgermlineyes114not providednot providedyesresearch

Details of each submission

From INSERM UMR 1170, INSERM, SCV000224007.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1West Indies11not providedyesresearchnot provided

Description

overexpression of ATG2B and GSKIP enhance hematopoietic progenitor differentiation

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided11not provided4not provided

Last Updated: May 16, 2025