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GRCh38/hg38 Yp11.31-11.2(chrY:378139-762734)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000135258.3

Allele description [Variation Report for GRCh38/hg38 Yp11.31-11.2(chrY:378139-762734)x3]

GRCh38/hg38 Yp11.31-11.2(chrY:378139-762734)x3

Genes:
  • CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
  • CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
  • CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
  • CNE4:CNE4 enhancer downstream of SHOX [Gene]
  • LOC107652445:meiotic recombination hotspot SHOX [Gene]
  • PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
  • SHOX:short stature homeobox [Gene - OMIM - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yp11.31-11.2
Genomic location:
Preferred name:
GRCh38/hg38 Yp11.31-11.2(chrY:378139-762734)x3
HGVS:
  • NC_000024.10:g.(?_378139)_(762734_?)dup
  • NC_000024.9:g.(?_288874)_(673469_?)dup
Links:
dbVar: nssv585134; dbVar: nsv498431
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
SCV000174936GeneDx
no assertion criteria provided
Likely benign
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000174936.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Mar 26, 2023