U.S. flag

An official website of the United States government

GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2023
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:
RCV003885450.4

Allele description

GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1

Genes:
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • FRG2B:FSHD region gene 2 family member B [Gene - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q26.3
Genomic location:
Chr10: 131299771 - 135441274 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004698222CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
    Pathogenic
    (Dec 1, 2023)
    germlineclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV004698222.4

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

    Last Updated: Jun 17, 2024