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GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 12, 2018
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:
RCV000683362.1

Allele description [Variation Report for GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3]

GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3

Genes:
  • CD5:CD5 molecule [Gene - OMIM - HGNC]
  • CD6:CD6 molecule [Gene - OMIM - HGNC]
  • PATL1:PAT1 homolog 1, processing body mRNA decay factor [Gene - OMIM - HGNC]
  • RAB3IL1:RAB3A interacting protein like 1 [Gene - HGNC]
  • VPS37C:VPS37C subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ASRGL1:asparaginase and isoaspartyl peptidase 1 [Gene - OMIM - HGNC]
  • BEST1:bestrophin 1 [Gene - OMIM - HGNC]
  • CPSF7:cleavage and polyadenylation specific factor 7 [Gene - HGNC]
  • CBLIF:cobalamin binding intrinsic factor [Gene - OMIM - HGNC]
  • CCDC86:coiled-coil domain containing 86 [Gene - OMIM - HGNC]
  • CYB561A3:cytochrome b561 family member A3 [Gene - OMIM - HGNC]
  • DDB1:damage specific DNA binding protein 1 [Gene - OMIM - HGNC]
  • DTX4:deltex E3 ubiquitin ligase 4 [Gene - OMIM - HGNC]
  • DAGLA:diacylglycerol lipase alpha [Gene - OMIM - HGNC]
  • FADS1:fatty acid desaturase 1 [Gene - OMIM - HGNC]
  • FADS2:fatty acid desaturase 2 [Gene - OMIM - HGNC]
  • FADS3:fatty acid desaturase 3 [Gene - OMIM - HGNC]
  • FTH1:ferritin heavy chain 1 [Gene - OMIM - HGNC]
  • FEN1:flap structure-specific endonuclease 1 [Gene - OMIM - HGNC]
  • INCENP:inner centromere protein [Gene - OMIM - HGNC]
  • LRRC10B:leucine rich repeat containing 10B [Gene - HGNC]
  • MPEG1:macrophage expressed 1 [Gene - OMIM - HGNC]
  • MS4A10:membrane spanning 4-domains A10 [Gene - OMIM - HGNC]
  • MS4A12:membrane spanning 4-domains A12 [Gene - OMIM - HGNC]
  • MS4A13:membrane spanning 4-domains A13 [Gene - HGNC]
  • MS4A14:membrane spanning 4-domains A14 [Gene - HGNC]
  • MS4A15:membrane spanning 4-domains A15 [Gene - HGNC]
  • MS4A18:membrane spanning 4-domains A18 [Gene - HGNC]
  • MS4A1:membrane spanning 4-domains A1 [Gene - OMIM - HGNC]
  • MS4A2:membrane spanning 4-domains A2 [Gene - OMIM - HGNC]
  • MS4A3:membrane spanning 4-domains A3 [Gene - OMIM - HGNC]
  • MS4A4A:membrane spanning 4-domains A4A [Gene - OMIM - HGNC]
  • MS4A4E:membrane spanning 4-domains A4E [Gene - OMIM - HGNC]
  • MS4A5:membrane spanning 4-domains A5 [Gene - OMIM - HGNC]
  • MS4A6A:membrane spanning 4-domains A6A [Gene - OMIM - HGNC]
  • MS4A6E:membrane spanning 4-domains A6E [Gene - OMIM - HGNC]
  • MS4A7:membrane spanning 4-domains A7 [Gene - OMIM - HGNC]
  • MS4A8:membrane spanning 4-domains A8 [Gene - OMIM - HGNC]
  • MRPL16:mitochondrial ribosomal protein L16 [Gene - OMIM - HGNC]
  • MYRF:myelin regulatory factor [Gene - OMIM - HGNC]
  • OR10V1:olfactory receptor family 10 subfamily V member 1 [Gene - HGNC]
  • OR4D10:olfactory receptor family 4 subfamily D member 10 [Gene - HGNC]
  • OR4D11:olfactory receptor family 4 subfamily D member 11 [Gene - HGNC]
  • OR4D6:olfactory receptor family 4 subfamily D member 6 [Gene - HGNC]
  • OR4D9:olfactory receptor family 4 subfamily D member 9 [Gene - HGNC]
  • OR5A1:olfactory receptor family 5 subfamily A member 1 [Gene - HGNC]
  • OR5A2:olfactory receptor family 5 subfamily A member 2 [Gene - HGNC]
  • OR5AN1:olfactory receptor family 5 subfamily AN member 1 [Gene - OMIM - HGNC]
  • OOSP2:oocyte secreted protein 2 [Gene - HGNC]
  • OSBP:oxysterol binding protein [Gene - OMIM - HGNC]
  • PGA3:pepsinogen A3 [Gene - OMIM - HGNC]
  • PGA4:pepsinogen A4 [Gene - OMIM - HGNC]
  • PGA5:pepsinogen A5 [Gene - OMIM - HGNC]
  • PRPF19:pre-mRNA processing factor 19 [Gene - OMIM - HGNC]
  • PTGDR2:prostaglandin D2 receptor 2 [Gene - OMIM - HGNC]
  • PPP1R32:protein phosphatase 1 regulatory subunit 32 [Gene - OMIM - HGNC]
  • SCGB1D1:secretoglobin family 1D member 1 [Gene - OMIM - HGNC]
  • SCGB1D2:secretoglobin family 1D member 2 [Gene - OMIM - HGNC]
  • SCGB1D4:secretoglobin family 1D member 4 [Gene - OMIM - HGNC]
  • SCGB2A1:secretoglobin family 2A member 1 [Gene - OMIM - HGNC]
  • SCGB2A2:secretoglobin family 2A member 2 [Gene - OMIM - HGNC]
  • SLC15A3:solute carrier family 15 member 3 [Gene - OMIM - HGNC]
  • SDHAF2:succinate dehydrogenase complex assembly factor 2 [Gene - OMIM - HGNC]
  • SYT7:synaptotagmin 7 [Gene - OMIM - HGNC]
  • STX3:syntaxin 3 [Gene - OMIM - HGNC]
  • TCN1:transcobalamin 1 [Gene - OMIM - HGNC]
  • TMEM109:transmembrane protein 109 [Gene - OMIM - HGNC]
  • TMEM132A:transmembrane protein 132A [Gene - OMIM - HGNC]
  • TMEM138:transmembrane protein 138 [Gene - OMIM - HGNC]
  • TMEM216:transmembrane protein 216 [Gene - OMIM - HGNC]
  • TMEM258:transmembrane protein 258 [Gene - OMIM - HGNC]
  • TKFC:triokinase and FMN cyclase [Gene - OMIM - HGNC]
  • VWCE:von Willebrand factor C and EGF domains [Gene - OMIM - HGNC]
  • ZP1:zona pellucida glycoprotein 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q12.1-12.3
Genomic location:
Chr11: 58935215 - 62177656 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000810870Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Likely pathogenic
    (May 12, 2018)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000810870.1

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

    Last Updated: Nov 5, 2022