U.S. flag

An official website of the United States government

NC_000001.11:g.6234122_6508845dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 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:
RCV001542377.1

Allele description [Variation Report for NC_000001.11:g.6234122_6508845dup]

NC_000001.11:g.6234122_6508845dup

Genes:
  • LOC129929233:ATAC-STARR-seq lymphoblastoid active region 76 [Gene]
  • LOC129929234:ATAC-STARR-seq lymphoblastoid active region 77 [Gene]
  • LOC129929235:ATAC-STARR-seq lymphoblastoid active region 78 [Gene]
  • LOC129929236:ATAC-STARR-seq lymphoblastoid active region 79 [Gene]
  • LOC129929237:ATAC-STARR-seq lymphoblastoid active region 80 [Gene]
  • LOC129929240:ATAC-STARR-seq lymphoblastoid active region 82 [Gene]
  • LOC129929224:ATAC-STARR-seq lymphoblastoid silent region 141 [Gene]
  • LOC129929225:ATAC-STARR-seq lymphoblastoid silent region 142 [Gene]
  • LOC129929226:ATAC-STARR-seq lymphoblastoid silent region 144 [Gene]
  • LOC129929227:ATAC-STARR-seq lymphoblastoid silent region 145 [Gene]
  • LOC129929228:ATAC-STARR-seq lymphoblastoid silent region 146 [Gene]
  • LOC129929229:ATAC-STARR-seq lymphoblastoid silent region 147 [Gene]
  • LOC129929230:ATAC-STARR-seq lymphoblastoid silent region 148 [Gene]
  • LOC129929231:ATAC-STARR-seq lymphoblastoid silent region 149 [Gene]
  • LOC129929232:ATAC-STARR-seq lymphoblastoid silent region 150 [Gene]
  • LOC129929238:ATAC-STARR-seq lymphoblastoid silent region 153 [Gene]
  • LOC129929239:ATAC-STARR-seq lymphoblastoid silent region 154 [Gene]
  • LOC129929241:ATAC-STARR-seq lymphoblastoid silent region 155 [Gene]
  • LOC129929242:ATAC-STARR-seq lymphoblastoid silent region 156 [Gene]
  • LOC129929243:ATAC-STARR-seq lymphoblastoid silent region 157 [Gene]
  • LOC129929244:ATAC-STARR-seq lymphoblastoid silent region 158 [Gene]
  • LOC129929245:ATAC-STARR-seq lymphoblastoid silent region 159 [Gene]
  • LOC129929246:ATAC-STARR-seq lymphoblastoid silent region 160 [Gene]
  • LOC129929247:ATAC-STARR-seq lymphoblastoid silent region 161 [Gene]
  • GPR153:G protein-coupled receptor 153 [Gene - OMIM - HGNC]
  • ICMT-DT:ICMT divergent transcript [Gene - HGNC]
  • LOC126805598:MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 [Gene]
  • LOC126805597:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:6361272-6362471 [Gene]
  • LOC121967058:Sharpr-MPRA regulatory region 5603 [Gene]
  • TNFRSF25:TNF receptor superfamily member 25 [Gene - OMIM - HGNC]
  • ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM - HGNC]
  • ESPN:espin [Gene - OMIM - HGNC]
  • HES2:hes family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • HES3:hes family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM - HGNC]
  • MIR4252:microRNA 4252 [Gene - HGNC]
  • PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.31
Genomic location:
Chr1: 6234122 - 6508845 (on Assembly GRCh38)
Preferred name:
NC_000001.11:g.6234122_6508845dup
HGVS:
NC_000001.11:g.6234122_6508845dup
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV001761070New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 29, 2020) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001761070.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023