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GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735) AND duplication 8q12

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 20, 2020
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:
RCV001255692.2

Allele description [Variation Report for GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)]

GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)

Genes:
  • RAB2A:RAB2A, member RAS oncogene family [Gene - OMIM - HGNC]
  • ASPH:aspartate beta-hydroxylase [Gene - OMIM - HGNC]
  • CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]
  • CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
  • CLVS1:clavesin 1 [Gene - OMIM - HGNC]
  • NKAIN3:sodium/potassium transporting ATPase interacting 3 [Gene - OMIM - HGNC]
  • TOX:thymocyte selection associated high mobility group box [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q12.1-12.3
Genomic location:
Chr8: 60026663 - 63779735 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)
HGVS:

    Condition(s)

    Name:
    duplication 8q12
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001335590Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    		Likely pathogenic
    (May 20, 2020)     		de novoclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001335590.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedclinical testingnot provided

    Description

    PMID: 18413373; PMID: 19772954; PMID: 22258531; PMID: 22902603; PMID: 24206642

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 1, 2023