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GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000240177.2

Allele description [Variation Report for GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1]

GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1

Genes:
  • ARF5:ADP ribosylation factor 5 [Gene - OMIM - HGNC]
  • CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
  • FAM3C:FAM3 metabolism regulating signaling molecule C [Gene - OMIM - HGNC]
  • FEZF1:FEZ family zinc finger 1 [Gene - OMIM - HGNC]
  • GPR37:G protein-coupled receptor 37 [Gene - OMIM - HGNC]
  • GPR85:G protein-coupled receptor 85 [Gene - OMIM - HGNC]
  • GCC1:GRIP and coiled-coil domain containing 1 [Gene - OMIM - HGNC]
  • IQUB:IQ motif and ubiquitin domain containing [Gene - HGNC]
  • LSM8:LSM8 homolog, U6 small nuclear RNA associated [Gene - OMIM - HGNC]
  • MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
  • NDUFA5:NADH:ubiquinone oxidoreductase subunit A5 [Gene - OMIM - HGNC]
  • RNU2-1:RNA, U2 small nuclear 1 [Gene - OMIM - HGNC]
  • ST7-OT3:ST7 overlapping transcript 3 [Gene - HGNC]
  • ST7-OT4:ST7 overlapping transcript 4 [Gene - HGNC]
  • WASL:WASP like actin nucleation promoting factor [Gene - OMIM - HGNC]
  • WNT16:Wnt family member 16 [Gene - OMIM - HGNC]
  • WNT2:Wnt family member 2 [Gene - OMIM - HGNC]
  • AASS:aminoadipate-semialdehyde synthase [Gene - OMIM - HGNC]
  • ASB15:ankyrin repeat and SOCS box containing 15 [Gene - OMIM - HGNC]
  • ANKRD7:ankyrin repeat domain 7 [Gene - OMIM - HGNC]
  • ASZ1:ankyrin repeat, SAM and basic leucine zipper domain containing 1 [Gene - OMIM - HGNC]
  • BMT2:base methyltransferase of 25S rRNA 2 homolog [Gene - OMIM - HGNC]
  • CPED1:cadherin like and PC-esterase domain containing 1 [Gene - HGNC]
  • CADPS2:calcium dependent secretion activator 2 [Gene - OMIM - HGNC]
  • CAPZA2:capping actin protein of muscle Z-line subunit alpha 2 [Gene - OMIM - HGNC]
  • CAV1:caveolin 1 [Gene - OMIM - HGNC]
  • CAV2:caveolin 2 [Gene - OMIM - HGNC]
  • CTTNBP2:cortactin binding protein 2 [Gene - OMIM - HGNC]
  • DOCK4:dedicator of cytokinesis 4 [Gene - OMIM - HGNC]
  • FSCN3:fascin actin-bundling protein 3 [Gene - OMIM - HGNC]
  • FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
  • GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]
  • HYAL4:hyaluronidase 4 [Gene - OMIM - HGNC]
  • ING3:inhibitor of growth family member 3 [Gene - OMIM - HGNC]
  • IFRD1:interferon related developmental regulator 1 [Gene - OMIM - HGNC]
  • LMOD2:leiomodin 2 [Gene - OMIM - HGNC]
  • LEP:leptin [Gene - OMIM - HGNC]
  • LRRC4:leucine rich repeat containing 4 [Gene - OMIM - HGNC]
  • LSMEM1:leucine rich single-pass membrane protein 1 [Gene - HGNC]
  • PAX4:paired box 4 [Gene - OMIM - HGNC]
  • KCND2:potassium voltage-gated channel subfamily D member 2 [Gene - OMIM - HGNC]
  • POT1:protection of telomeres 1 [Gene - OMIM - HGNC]
  • PPP1R3A:protein phosphatase 1 regulatory subunit 3A [Gene - OMIM - HGNC]
  • PTPRZ1:protein tyrosine phosphatase receptor type Z1 [Gene - OMIM - HGNC]
  • RNF133:ring finger protein 133 [Gene - HGNC]
  • RNF148:ring finger protein 148 [Gene - HGNC]
  • SLC13A1:solute carrier family 13 member 1 [Gene - OMIM - HGNC]
  • SPAM1:sperm adhesion molecule 1 [Gene - OMIM - HGNC]
  • SND1:staphylococcal nuclease and tudor domain containing 1 [Gene - OMIM - HGNC]
  • ST7:suppression of tumorigenicity 7 [Gene - OMIM - HGNC]
  • TAS2R16:taste 2 receptor member 16 [Gene - OMIM - HGNC]
  • TES:testin LIM domain protein [Gene - OMIM - HGNC]
  • TSPAN12:tetraspanin 12 [Gene - OMIM - HGNC]
  • TFEC:transcription factor EC [Gene - OMIM - HGNC]
  • TMEM168:transmembrane protein 168 [Gene - HGNC]
  • TMEM229A:transmembrane protein 229A [Gene - HGNC]
  • ZNF277:zinc finger protein 277 [Gene - OMIM - HGNC]
  • ZNF800:zinc finger protein 800 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q31.1-32.1
Genomic location:
Chr7: 111613396 - 127897316 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1
HGVS:
NC_000007.13:g.(?_111613396)_(127897316_?)del

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298396GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jan 20, 2016)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298396.3

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

Last Updated: Apr 23, 2022