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NC_000015.10:g.61919523_62253599dup AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 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:
RCV001291766.1

Allele description [Variation Report for NC_000015.10:g.61919523_62253599dup]

NC_000015.10:g.61919523_62253599dup

Genes:
  • LOC130057213:ATAC-STARR-seq lymphoblastoid active region 9520 [Gene]
  • LOC130057214:ATAC-STARR-seq lymphoblastoid active region 9521 [Gene]
  • LOC130057212:ATAC-STARR-seq lymphoblastoid silent region 6502 [Gene]
  • LOC130057215:ATAC-STARR-seq lymphoblastoid silent region 6503 [Gene]
  • LOC130057216:ATAC-STARR-seq lymphoblastoid silent region 6504 [Gene]
  • LOC130057217:ATAC-STARR-seq lymphoblastoid silent region 6505 [Gene]
  • C2CD4A:C2 calcium dependent domain containing 4A [Gene - OMIM - HGNC]
  • C2CD4B:C2 calcium dependent domain containing 4B [Gene - OMIM - HGNC]
  • LOC129390712:MPRA-validated peak2366 silencer [Gene]
  • LOC125078094:Sharpr-MPRA regulatory region 14002 [Gene]
  • VPS13C-DT:VPS13C divergent transcript [Gene - HGNC]
  • LOC107984784:uncharacterized LOC107984784 [Gene]
  • VPS13C:vacuolar protein sorting 13 homolog C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q22.2
Genomic location:
Chr15: 61919523 - 62253599 (on Assembly GRCh38)
Preferred name:
NC_000015.10:g.61919523_62253599dup
HGVS:
NC_000015.10:g.61919523_62253599dup
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480383New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 26, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001480383.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023