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GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 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:
RCV001005791.1

Allele description [Variation Report for GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3]

GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3

Genes:
  • AGPAT1:1-acylglycerol-3-phosphate O-acyltransferase 1 [Gene - OMIM - HGNC]
  • ATP6V1G2:ATPase H+ transporting V1 subunit G2 [Gene - OMIM - HGNC]
  • BAG6:BAG cochaperone 6 [Gene - OMIM - HGNC]
  • BAK1:BCL2 antagonist/killer 1 [Gene - OMIM - HGNC]
  • DDAH2:DDAH family member 2, ADMA-independent [Gene - OMIM - HGNC]
  • DDX39B:DExD-box helicase 39B [Gene - OMIM - HGNC]
  • EGFL8:EGF like domain multiple 8 [Gene - OMIM - HGNC]
  • FKBPL:FKBP prolyl isomerase like [Gene - OMIM - HGNC]
  • GPSM3:G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • GPANK1:G-patch domain and ankyrin repeats 1 [Gene - OMIM - HGNC]
  • HCP5:HLA complex P5 [Gene - OMIM - HGNC]
  • HCG26:HLA complex group 26 [Gene - HGNC]
  • LEMD2:LEM domain nuclear envelope protein 2 [Gene - OMIM - HGNC]
  • LSM2:LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MICA:MHC class I polypeptide-related sequence A [Gene - OMIM - HGNC]
  • MICB:MHC class I polypeptide-related sequence B [Gene - OMIM - HGNC]
  • NFKBIL1:NFKB inhibitor like 1 [Gene - OMIM - HGNC]
  • PBX2:PBX homeobox 2 [Gene - OMIM - HGNC]
  • PHF1:PHD finger protein 1 [Gene - OMIM - HGNC]
  • POU5F1:POU class 5 homeobox 1 [Gene - OMIM - HGNC]
  • SKIC2:SKI2 subunit of superkiller complex [Gene - OMIM - HGNC]
  • TAPBP:TAP binding protein [Gene - OMIM - HGNC]
  • VPS52:VPS52 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR46:WD repeat domain 46 [Gene - OMIM - HGNC]
  • ABHD16A:abhydrolase domain containing 16A, phospholipase [Gene - OMIM - HGNC]
  • ATF6B:activating transcription factor 6 beta [Gene - OMIM - HGNC]
  • AGER:advanced glycosylation end-product specific receptor [Gene - OMIM - HGNC]
  • AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
  • APOM:apolipoprotein M [Gene - OMIM - HGNC]
  • B3GALT4:beta-1,3-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • BRD2:bromodomain containing 2 [Gene - OMIM - HGNC]
  • BTNL2:butyrophilin like 2 [Gene - OMIM - HGNC]
  • CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
  • CLIC1:chloride intracellular channel 1 [Gene - OMIM - HGNC]
  • C6orf15:chromosome 6 open reading frame 15 [Gene - OMIM - HGNC]
  • C6orf47:chromosome 6 open reading frame 47 [Gene - HGNC]
  • CCHCR1:coiled-coil alpha-helical rod protein 1 [Gene - OMIM - HGNC]
  • COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
  • C2:complement C2 [Gene - OMIM - HGNC]
  • C4A:complement C4A (Rodgers blood group) [Gene - OMIM - HGNC]
  • C4B:complement C4B (Chido blood group) [Gene - OMIM - HGNC]
  • CFB:complement factor B [Gene - OMIM - HGNC]
  • CDSN:corneodesmosin [Gene - OMIM - HGNC]
  • CUTA:cutA divalent cation tolerance homolog [Gene - OMIM - HGNC]
  • CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
  • DAXX:death domain associated protein [Gene - OMIM - HGNC]
  • DXO:decapping exoribonuclease [Gene - OMIM - HGNC]
  • EHMT2:euchromatic histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • GRM4:glutamate metabotropic receptor 4 [Gene - OMIM - HGNC]
  • HSPA1L:heat shock protein family A (Hsp70) member 1 like [Gene - OMIM - HGNC]
  • HSPA1A:heat shock protein family A (Hsp70) member 1A [Gene - OMIM - HGNC]
  • HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
  • HSD17B8:hydroxysteroid 17-beta dehydrogenase 8 [Gene - OMIM - HGNC]
  • ITPR3:inositol 1,4,5-trisphosphate receptor type 3 [Gene - OMIM - HGNC]
  • IP6K3:inositol hexakisphosphate kinase 3 [Gene - OMIM - HGNC]
  • KIFC1:kinesin family member C1 [Gene - OMIM - HGNC]
  • LST1:leukocyte specific transcript 1 [Gene - OMIM - HGNC]
  • LY6G5B:lymphocyte antigen 6 family member G5B [Gene - OMIM - HGNC]
  • LY6G5C:lymphocyte antigen 6 family member G5C [Gene - OMIM - HGNC]
  • LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
  • LY6G6D:lymphocyte antigen 6 family member G6D [Gene - OMIM - HGNC]
  • LY6G6F:lymphocyte antigen 6 family member G6F [Gene - OMIM - HGNC]
  • LTA:lymphotoxin alpha [Gene - OMIM - HGNC]
  • LTB:lymphotoxin beta [Gene - OMIM - HGNC]
  • HLA-B:major histocompatibility complex, class I, B [Gene - OMIM - HGNC]
  • HLA-C:major histocompatibility complex, class I, C [Gene - OMIM - HGNC]
  • HLA-DMA:major histocompatibility complex, class II, DM alpha [Gene - OMIM - HGNC]
  • HLA-DMB:major histocompatibility complex, class II, DM beta [Gene - OMIM - HGNC]
  • HLA-DOA:major histocompatibility complex, class II, DO alpha [Gene - OMIM - HGNC]
  • HLA-DOB:major histocompatibility complex, class II, DO beta [Gene - OMIM - HGNC]
  • HLA-DPA1:major histocompatibility complex, class II, DP alpha 1 [Gene - OMIM - HGNC]
  • HLA-DPB1:major histocompatibility complex, class II, DP beta 1 [Gene - OMIM - HGNC]
  • HLA-DQA1:major histocompatibility complex, class II, DQ alpha 1 [Gene - OMIM - HGNC]
  • HLA-DQA2:major histocompatibility complex, class II, DQ alpha 2 [Gene - OMIM - HGNC]
  • HLA-DQB1:major histocompatibility complex, class II, DQ beta 1 [Gene - OMIM - HGNC]
  • HLA-DQB2:major histocompatibility complex, class II, DQ beta 2 [Gene - OMIM - HGNC]
  • HLA-DRA:major histocompatibility complex, class II, DR alpha [Gene - OMIM - HGNC]
  • HLA-DRB1:major histocompatibility complex, class II, DR beta 1 [Gene - OMIM - HGNC]
  • HLA-DRB5:major histocompatibility complex, class II, DR beta 5 [Gene - OMIM - HGNC]
  • MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]
  • MIR219A1:microRNA 219a-1 [Gene - OMIM - HGNC]
  • MCCD1:mitochondrial coiled-coil domain 1 [Gene - OMIM - HGNC]
  • MLN:motilin [Gene - OMIM - HGNC]
  • MSH5:mutS homolog 5 [Gene - OMIM - HGNC]
  • NCR3:natural cytotoxicity triggering receptor 3 [Gene - OMIM - HGNC]
  • NELFE:negative elongation factor complex member E [Gene - OMIM - HGNC]
  • NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
  • NOTCH4:notch receptor 4 [Gene - OMIM - HGNC]
  • PPT2:palmitoyl-protein thioesterase 2 [Gene - OMIM - HGNC]
  • PFDN6:prefoldin subunit 6 [Gene - OMIM - HGNC]
  • PRRC2A:proline rich coiled-coil 2A [Gene - OMIM - HGNC]
  • PRRT1:proline rich transmembrane protein 1 [Gene - OMIM - HGNC]
  • PSMB8:proteasome 20S subunit beta 8 [Gene - OMIM - HGNC]
  • PSMB9:proteasome 20S subunit beta 9 [Gene - OMIM - HGNC]
  • PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
  • PSORS1C2:psoriasis susceptibility 1 candidate 2 [Gene - OMIM - HGNC]
  • RGL2:ral guanine nucleotide dissociation stimulator like 2 [Gene - OMIM - HGNC]
  • RXRB:retinoid X receptor beta [Gene - OMIM - HGNC]
  • RPS18:ribosomal protein S18 [Gene - OMIM - HGNC]
  • RING1:ring finger protein 1 [Gene - OMIM - HGNC]
  • RNF5:ring finger protein 5 [Gene - OMIM - HGNC]
  • STK19:serine/threonine kinase 19 [Gene - OMIM - HGNC]
  • SNHG32:small nucleolar RNA host gene 32 [Gene - OMIM - HGNC]
  • SLC39A7:solute carrier family 39 member 7 [Gene - OMIM - HGNC]
  • SLC44A4:solute carrier family 44 member 4 [Gene - OMIM - HGNC]
  • SAPCD1:suppressor APC domain containing 1 [Gene - HGNC]
  • SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]
  • TNXB:tenascin XB [Gene - OMIM - HGNC]
  • TSBP1:testis expressed basic protein 1 [Gene - OMIM - HGNC]
  • TCF19:transcription factor 19 [Gene - OMIM - HGNC]
  • TAP1:transporter 1, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TAP2:transporter 2, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TNF:tumor necrosis factor [Gene - OMIM - HGNC]
  • UQCC2:ubiquinol-cytochrome c reductase complex assembly factor 2 [Gene - OMIM - HGNC]
  • VARS1:valyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • VWA7:von Willebrand factor A domain containing 7 [Gene - OMIM - HGNC]
  • ZBTB12:zinc finger and BTB domain containing 12 [Gene - HGNC]
  • ZBTB22:zinc finger and BTB domain containing 22 [Gene - OMIM - HGNC]
  • ZBTB9:zinc finger and BTB domain containing 9 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p21.33-21.31
Genomic location:
Chr6: 31036397 - 34088832 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)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
    SCV001165342Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Likely pathogenic
    (Jul 10, 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, SCV001165342.1

    #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: Oct 14, 2023