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GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 AND not specified

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003986701.1

Allele description [Variation Report for GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1]

GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1

Genes:
  • ATP5MF:ATP synthase membrane subunit f [Gene - OMIM - HGNC]
  • ATP5MF-PTCD1:ATP5MF-PTCD1 readthrough [Gene - HGNC]
  • AGFG2:ArfGAP with FG repeats 2 [Gene - OMIM - HGNC]
  • BUD31:BUD31 homolog [Gene - OMIM - HGNC]
  • COPS6:COP9 signalosome subunit 6 [Gene - OMIM - HGNC]
  • EPHB4:EPH receptor B4 [Gene - OMIM - HGNC]
  • FBXO24:F-box protein 24 [Gene - OMIM - HGNC]
  • GNB2:G protein subunit beta 2 [Gene - OMIM - HGNC]
  • GIGYF1:GRB10 interacting GYF protein 1 [Gene - OMIM - HGNC]
  • NAT16:N-acetyltransferase 16 (putative) [Gene - OMIM - HGNC]
  • ORAI2:ORAI calcium release-activated calcium modulator 2 [Gene - OMIM - HGNC]
  • PDAP1:PDGFA associated protein 1 [Gene - OMIM - HGNC]
  • POP7:POP7 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • PRKRIP1:PRKR interacting protein 1 [Gene - OMIM - HGNC]
  • PVRIG:PVR related immunoglobulin domain containing [Gene - OMIM - HGNC]
  • SH2B2:SH2B adaptor protein 2 [Gene - OMIM - HGNC]
  • SMURF1:SMAD specific E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • STAG3:STAG3 cohesin complex component [Gene - OMIM - HGNC]
  • SAP25:Sin3A associated protein 25 [Gene - OMIM - HGNC]
  • TAF6:TATA-box binding protein associated factor 6 [Gene - OMIM - HGNC]
  • TSC22D4:TSC22 domain family member 4 [Gene - OMIM - HGNC]
  • UFSP1:UFM1 specific peptidase 1 (inactive) [Gene - OMIM - HGNC]
  • VGF:VGF nerve growth factor inducible [Gene - OMIM - HGNC]
  • ZASP:ZO-2 associated speckle protein [Gene - OMIM]
  • ACHE:acetylcholinesterase (Yt blood group) [Gene - OMIM - HGNC]
  • ACTL6B:actin like 6B [Gene - OMIM - HGNC]
  • ARPC1A:actin related protein 2/3 complex subunit 1A [Gene - OMIM - HGNC]
  • ARPC1B:actin related protein 2/3 complex subunit 1B [Gene - OMIM - HGNC]
  • AP1S1:adaptor related protein complex 1 subunit sigma 1 [Gene - OMIM - HGNC]
  • AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
  • ALKBH4:alkB homolog 4, lysine demethylase [Gene - OMIM - HGNC]
  • AZGP1:alpha-2-glycoprotein 1, zinc-binding [Gene - OMIM - HGNC]
  • CNPY4:canopy FGF signaling regulator 4 [Gene - OMIM - HGNC]
  • CLDN15:claudin 15 [Gene - OMIM - HGNC]
  • CPSF4:cleavage and polyadenylation specific factor 4 [Gene - OMIM - HGNC]
  • COL26A1:collagen type XXVI alpha 1 chain [Gene - OMIM - HGNC]
  • CUX1:cut like homeobox 1 [Gene - OMIM - HGNC]
  • CYP3A43:cytochrome P450 family 3 subfamily A member 43 [Gene - OMIM - HGNC]
  • CYP3A4:cytochrome P450 family 3 subfamily A member 4 [Gene - OMIM - HGNC]
  • CYP3A5:cytochrome P450 family 3 subfamily A member 5 [Gene - OMIM - HGNC]
  • CYP3A7:cytochrome P450 family 3 subfamily A member 7 [Gene - OMIM - HGNC]
  • EPO:erythropoietin [Gene - OMIM - HGNC]
  • FAM200A:family with sequence similarity 200 member A [Gene - HGNC]
  • FIS1:fission, mitochondrial 1 [Gene - OMIM - HGNC]
  • GAL3ST4:galactose-3-O-sulfotransferase 4 [Gene - OMIM - HGNC]
  • GJC3:gap junction protein gamma 3 [Gene - OMIM - HGNC]
  • GPC2:glypican 2 [Gene - OMIM - HGNC]
  • IFT22:intraflagellar transport 22 [Gene - OMIM - HGNC]
  • KPNA7:karyopherin subunit alpha 7 [Gene - OMIM - HGNC]
  • LAMTOR4:late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 [Gene - OMIM - HGNC]
  • LRWD1:leucine rich repeats and WD repeat domain containing 1 [Gene - OMIM - HGNC]
  • LRCH4:leucine rich repeats and calponin homology domain containing 4 [Gene - OMIM - HGNC]
  • MBLAC1:metallo-beta-lactamase domain containing 1 [Gene - HGNC]
  • MEPCE:methylphosphate capping enzyme [Gene - OMIM - HGNC]
  • MIR106B:microRNA 106b [Gene - OMIM - HGNC]
  • MIR25:microRNA 25 [Gene - OMIM - HGNC]
  • MIR93:microRNA 93 [Gene - OMIM - HGNC]
  • MCM7:minichromosome maintenance complex component 7 [Gene - OMIM - HGNC]
  • MOGAT3:monoacylglycerol O-acyltransferase 3 [Gene - OMIM - HGNC]
  • MOSPD3:motile sperm domain containing 3 [Gene - OMIM - HGNC]
  • MUC12:mucin 12, cell surface associated [Gene - OMIM - HGNC]
  • MUC17:mucin 17, cell surface associated [Gene - OMIM - HGNC]
  • MUC3A:mucin 3A, cell surface associated [Gene - OMIM - HGNC]
  • MYL10:myosin light chain 10 [Gene - OMIM - HGNC]
  • NYAP1:neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 [Gene - OMIM - HGNC]
  • OR2AE1:olfactory receptor family 2 subfamily AE member 1 [Gene - HGNC]
  • PILRA:paired immunoglobin like type 2 receptor alpha [Gene - OMIM - HGNC]
  • PTCD1:pentatricopeptide repeat domain 1 [Gene - OMIM - HGNC]
  • PCOLCE:procollagen C-endopeptidase enhancer [Gene - OMIM - HGNC]
  • PLOD3:procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 [Gene - OMIM - HGNC]
  • PPP1R35:protein phosphatase 1 regulatory subunit 35 [Gene - OMIM - HGNC]
  • SERPINE1:serpin family E member 1 [Gene - OMIM - HGNC]
  • SRRT:serrate, RNA effector molecule [Gene - OMIM - HGNC]
  • SLC12A9:solute carrier family 12 member 9 [Gene - OMIM - HGNC]
  • SPDYE3:speedy/RINGO cell cycle regulator family member E3 [Gene - OMIM - HGNC]
  • SPDYE6:speedy/RINGO cell cycle regulator family member E6 [Gene - HGNC]
  • SPACDR:sperm acrosome developmental regulator [Gene - OMIM - HGNC]
  • TRIP6:thyroid hormone receptor interactor 6 [Gene - OMIM - HGNC]
  • TRAPPC14:trafficking protein particle complex subunit 14 [Gene - OMIM - HGNC]
  • TFR2:transferrin receptor 2 [Gene - OMIM - HGNC]
  • TRRAP:transformation/transcription domain associated protein [Gene - OMIM - HGNC]
  • TMEM130:transmembrane protein 130 [Gene - HGNC]
  • TRIM4:tripartite motif containing 4 [Gene - HGNC]
  • TRIM56:tripartite motif containing 56 [Gene - OMIM - HGNC]
  • ZCWPW1:zinc finger CW-type and PWWP domain containing 1 [Gene - OMIM - HGNC]
  • ZNHIT1:zinc finger HIT-type containing 1 [Gene - OMIM - HGNC]
  • ZSCAN21:zinc finger and SCAN domain containing 21 [Gene - OMIM - HGNC]
  • ZSCAN25:zinc finger and SCAN domain containing 25 [Gene - HGNC]
  • ZNF394:zinc finger protein 394 [Gene - OMIM - HGNC]
  • ZNF3:zinc finger protein 3 [Gene - OMIM - HGNC]
  • ZNF655:zinc finger protein 655 [Gene - OMIM - HGNC]
  • ZNF789:zinc finger protein 789 [Gene - HGNC]
  • ZKSCAN1:zinc finger with KRAB and SCAN domains 1 [Gene - OMIM - HGNC]
  • ZKSCAN5:zinc finger with KRAB and SCAN domains 5 [Gene - OMIM - HGNC]
  • ZAN:zonadhesin [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q22.1
Genomic location:
Chr7: 98396469 - 102108193 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004802830ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)
    Likely pathogenicgermlineclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802830.1

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

    Last Updated: Mar 30, 2024