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GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 19, 2023
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:
RCV003317674.1

Allele description [Variation Report for GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3]

GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3

Genes:
  • HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
  • HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
  • HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
  • HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
  • HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
  • OR51B2:olfactory receptor family 51 subfamily B member 2 [Gene - HGNC]
  • OR51B4:olfactory receptor family 51 subfamily B member 4 [Gene - HGNC]
  • OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
  • OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
  • OR51I1:olfactory receptor family 51 subfamily I member 1 [Gene - HGNC]
  • OR51I2:olfactory receptor family 51 subfamily I member 2 [Gene - HGNC]
  • OR51M1:olfactory receptor family 51 subfamily M member 1 [Gene - HGNC]
  • OR51Q1:olfactory receptor family 51 subfamily Q member 1 [Gene - HGNC]
  • OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
  • OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
  • OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
  • OR52B6:olfactory receptor family 52 subfamily B member 6 [Gene - HGNC]
  • OR52D1:olfactory receptor family 52 subfamily D member 1 [Gene - HGNC]
  • OR52H1:olfactory receptor family 52 subfamily H member 1 [Gene - HGNC]
  • OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
  • OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
  • TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
  • TRIM34:tripartite motif containing 34 [Gene - OMIM - HGNC]
  • TRIM5:tripartite motif containing 5 [Gene - OMIM - HGNC]
  • TRIM6:tripartite motif containing 6 [Gene - OMIM - HGNC]
  • UBQLN3:ubiquilin 3 [Gene - OMIM - HGNC]
  • UBQLNL:ubiquilin like [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.4
Genomic location:
Chr11: 5094756 - 5785959 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3
HGVS:
    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
    SCV003932686Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    		Likely benign
    (Jun 19, 2023)     		maternalclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedmaternalyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV003932686.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1maternalyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Jul 29, 2023