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GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002052846.3

Allele description [Variation Report for GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)]

GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)

Genes:
  • GARNL3:GTPase activating Rap/RanGAP domain like 3 [Gene - HGNC]
  • LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
  • RALGPS1:Ral GEF with PH domain and SH3 binding motif 1 [Gene - OMIM - HGNC]
  • SH2D3C:SH2 domain containing 3C [Gene - OMIM - HGNC]
  • ST6GALNAC4:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Gene - OMIM - HGNC]
  • ST6GALNAC6:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [Gene - OMIM - HGNC]
  • AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
  • ANGPTL2:angiopoietin like 2 [Gene - OMIM - HGNC]
  • CFAP157:cilia and flagella associated protein 157 [Gene - HGNC]
  • CDK9:cyclin dependent kinase 9 [Gene - OMIM - HGNC]
  • DPM2:dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Gene - OMIM - HGNC]
  • ENG:endoglin [Gene - OMIM - HGNC]
  • EEIG1:estrogen-induced osteoclastogenesis regulator 1 [Gene - OMIM - HGNC]
  • FPGS:folylpolyglutamate synthase [Gene - OMIM - HGNC]
  • LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]
  • MIR2861:microRNA 2861 [Gene - OMIM - HGNC]
  • MVB12B:multivesicular body subunit 12B [Gene - HGNC]
  • NIBAN2:niban apoptosis regulator 2 [Gene - OMIM - HGNC]
  • NRON:non-coding repressor of NFAT [Gene - OMIM - HGNC]
  • NAIF1:nuclear apoptosis inducing factor 1 [Gene - OMIM - HGNC]
  • PTRH1:peptidyl-tRNA hydrolase 1 homolog [Gene - HGNC]
  • PIP5KL1:phosphatidylinositol-4-phosphate 5-kinase like 1 [Gene - OMIM - HGNC]
  • RPL12:ribosomal protein L12 [Gene - OMIM - HGNC]
  • SLC2A8:solute carrier family 2 member 8 [Gene - OMIM - HGNC]
  • SLC25A25:solute carrier family 25 member 25 [Gene - OMIM - HGNC]
  • STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
  • TTC16:tetratricopeptide repeat domain 16 [Gene - HGNC]
  • TOR2A:torsin family 2 member A [Gene - OMIM - HGNC]
  • ZBTB34:zinc finger and BTB domain containing 34 [Gene - OMIM - HGNC]
  • ZBTB43:zinc finger and BTB domain containing 43 [Gene - OMIM - HGNC]
  • ZNF79:zinc finger protein 79 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q33.3-34.11
Genomic location:
Chr9: 129079208 - 130851795 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)
HGVS:
NC_000009.11:g.(?_129079208)_(130851795_?)del
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002319280ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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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, SCV002319280.1

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

Last Updated: Mar 26, 2023