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GRCh38/hg38 13q34(chr13:113814432-113825457)x3 AND See cases

Germline classification:
Benign/Likely benign (1 submission)
Last evaluated:
Apr 30, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000141155.4

Allele description [Variation Report for GRCh38/hg38 13q34(chr13:113814432-113825457)x3]

GRCh38/hg38 13q34(chr13:113814432-113825457)x3

Genes:
  • LOC130010186:ATAC-STARR-seq lymphoblastoid active region 8040 [Gene]
  • LOC130010187:ATAC-STARR-seq lymphoblastoid active region 8041 [Gene]
  • LOC130010188:ATAC-STARR-seq lymphoblastoid active region 8042 [Gene]
  • GAS6-AS1:GAS6 antisense RNA 1 [Gene - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q34
Genomic location:
Preferred name:
GRCh38/hg38 13q34(chr13:113814432-113825457)x3
HGVS:
  • NC_000013.11:g.(?_113814432)_(113825457_?)dup
  • NC_000013.10:g.(?_114517405)_(114528430_?)dup
Links:
dbVar: nssv1608740; dbVar: nssv1608745; dbVar: nsv932541
Observations:
2

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
SCV000182030GeneDx
no assertion criteria provided
Benign/Likely benign
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000182030.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided

Description

Likely benign (1), Benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023