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GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) 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:
RCV002053598.3

Allele description [Variation Report for GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)]

GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)

Genes:
  • NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
  • AFG1L:AFG1 like ATPase [Gene - OMIM - HGNC]
  • BEND3:BEN domain containing 3 [Gene - OMIM - HGNC]
  • CD164:CD164 molecule [Gene - OMIM - HGNC]
  • DDO:D-aspartate oxidase [Gene - OMIM - HGNC]
  • EPHA7:EPH receptor A7 [Gene - OMIM - HGNC]
  • FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]
  • FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
  • FYN:FYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GPR63:G protein-coupled receptor 63 [Gene - OMIM - HGNC]
  • GPR6:G protein-coupled receptor 6 [Gene - OMIM - HGNC]
  • GPRC6A:G protein-coupled receptor class C group 6 member A [Gene - OMIM - HGNC]
  • HACE1:HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • MMS22L:MMS22 like, DNA repair protein [Gene - OMIM - HGNC]
  • NDUFAF4:NADH:ubiquinone oxidoreductase complex assembly factor 4 [Gene - OMIM - HGNC]
  • NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [Gene - OMIM - HGNC]
  • PNISR:PNN interacting serine and arginine rich protein [Gene - OMIM - HGNC]
  • POU3F2:POU class 3 homeobox 2 [Gene - OMIM - HGNC]
  • PRDM13:PR/SET domain 13 [Gene - OMIM - HGNC]
  • PRDM1:PR/SET domain 1 [Gene - OMIM - HGNC]
  • REV3L:REV3 like, DNA directed polymerase zeta catalytic subunit [Gene - OMIM - HGNC]
  • ROS1:ROS proto-oncogene 1, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • RWDD1:RWD domain containing 1 [Gene - HGNC]
  • SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
  • SIM1:SIM bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • SCML4:Scm polycomb group protein like 4 [Gene - HGNC]
  • TRAF3IP2:TRAF3 interacting protein 2 [Gene - OMIM - HGNC]
  • TRAF3IP2-AS1:TRAF3IP2 antisense RNA 1 [Gene - HGNC]
  • TSPYL1:TSPY like 1 [Gene - OMIM - HGNC]
  • TSPYL4:TSPY like 4 [Gene - OMIM - HGNC]
  • UFL1:UFM1 specific ligase 1 [Gene - OMIM - HGNC]
  • WASF1:WASP family member 1 [Gene - OMIM - HGNC]
  • ASCC3:activating signal cointegrator 1 complex subunit 3 [Gene - OMIM - HGNC]
  • AMD1:adenosylmethionine decarboxylase 1 [Gene - OMIM - HGNC]
  • AK9:adenylate kinase 9 [Gene - OMIM - HGNC]
  • ARMC2:armadillo repeat containing 2 [Gene - OMIM - HGNC]
  • ATG5:autophagy related 5 [Gene - OMIM - HGNC]
  • BVES:blood vessel epicardial substance [Gene - OMIM - HGNC]
  • CALHM4:calcium homeostasis modulator family member 4 [Gene - HGNC]
  • CALHM5:calcium homeostasis modulator family member 5 [Gene - HGNC]
  • CALHM6:calcium homeostasis modulator family member 6 [Gene - OMIM - HGNC]
  • CDC40:cell division cycle 40 [Gene - OMIM - HGNC]
  • CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
  • CEP57L1:centrosomal protein 57 like 1 [Gene - HGNC]
  • COQ3:coenzyme Q3, methyltransferase [Gene - OMIM - HGNC]
  • COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]
  • CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]
  • CCNC:cyclin C [Gene - OMIM - HGNC]
  • CDK19:cyclin dependent kinase 19 [Gene - OMIM - HGNC]
  • PDSS2:decaprenyl diphosphate synthase subunit 2 [Gene - OMIM - HGNC]
  • DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
  • DCBLD1:discoidin, CUB and LCCL domain containing 1 [Gene - HGNC]
  • FAXC:failed axon connections homolog, metaxin like GST domain containing [Gene - HGNC]
  • FAM162B:family with sequence similarity 162 member B [Gene - HGNC]
  • FAM229B:family with sequence similarity 229 member B [Gene - HGNC]
  • FOXO3:forkhead box O3 [Gene - OMIM - HGNC]
  • FHL5:four and a half LIM domains 5 [Gene - OMIM - HGNC]
  • FUT9:fucosyltransferase 9 [Gene - OMIM - HGNC]
  • FRK:fyn related Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GTF3C6:general transcription factor IIIC subunit 6 [Gene - OMIM - HGNC]
  • GRIK2:glutamate ionotropic receptor kainate type subunit 2 [Gene - OMIM - HGNC]
  • QRSL1:glutaminyl-tRNA amidotransferase subunit QRSL1 [Gene - OMIM - HGNC]
  • GOPC:golgi associated PDZ and coiled-coil motif containing [Gene - OMIM - HGNC]
  • HS3ST5:heparan sulfate-glucosamine 3-sulfotransferase 5 [Gene - OMIM - HGNC]
  • HDAC2:histone deacetylase 2 [Gene - OMIM - HGNC]
  • KPNA5:karyopherin subunit alpha 5 [Gene - OMIM - HGNC]
  • KLHL32:kelch like family member 32 [Gene - HGNC]
  • LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
  • LIN28B:lin-28 homolog B [Gene - OMIM - HGNC]
  • MFSD4B:major facilitator superfamily domain containing 4B [Gene - OMIM - HGNC]
  • MANEA:mannosidase endo-alpha [Gene - OMIM - HGNC]
  • MCHR2:melanin concentrating hormone receptor 2 [Gene - OMIM - HGNC]
  • METTL24:methyltransferase like 24 [Gene - HGNC]
  • MICAL1:microtubule associated monooxygenase, calponin and LIM domain containing 1 [Gene - OMIM - HGNC]
  • MTRES1:mitochondrial transcription rescue factor 1 [Gene - OMIM - HGNC]
  • MARCKS:myristoylated alanine rich protein kinase C substrate [Gene - OMIM - HGNC]
  • NR2E1:nuclear receptor subfamily 2 group E member 1 [Gene - OMIM - HGNC]
  • OSTM1:osteoclastogenesis associated transmembrane protein 1 [Gene - OMIM - HGNC]
  • PPIL6:peptidylprolyl isomerase like 6 [Gene - HGNC]
  • POPDC3:popeye domain containing 3 [Gene - OMIM - HGNC]
  • PREP:prolyl endopeptidase [Gene - OMIM - HGNC]
  • RSPH4A:radial spoke head component 4A [Gene - OMIM - HGNC]
  • RFX6:regulatory factor X6 [Gene - OMIM - HGNC]
  • RFPL4B:ret finger protein like 4B [Gene - HGNC]
  • RTN4IP1:reticulon 4 interacting protein 1 [Gene - OMIM - HGNC]
  • RPF2:ribosome production factor 2 homolog [Gene - OMIM - HGNC]
  • SESN1:sestrin 1 [Gene - OMIM - HGNC]
  • SOBP:sine oculis binding protein homolog [Gene - OMIM - HGNC]
  • SLC16A10:solute carrier family 16 member 10 [Gene - OMIM - HGNC]
  • SLC22A16:solute carrier family 22 member 16 [Gene - OMIM - HGNC]
  • SLC35F1:solute carrier family 35 member F1 [Gene - OMIM - HGNC]
  • SNX3:sorting nexin 3 [Gene - OMIM - HGNC]
  • SMPD2:sphingomyelin phosphodiesterase 2 [Gene - OMIM - HGNC]
  • TSTD3:thiosulfate sulfurtransferase like domain containing 3 [Gene - HGNC]
  • TRAPPC3L:trafficking protein particle complex subunit 3L [Gene - OMIM - HGNC]
  • TUBE1:tubulin epsilon 1 [Gene - OMIM - HGNC]
  • USP45:ubiquitin specific peptidase 45 [Gene - OMIM - HGNC]
  • VGLL2:vestigial like family member 2 [Gene - OMIM - HGNC]
  • ZBTB24:zinc finger and BTB domain containing 24 [Gene - OMIM - HGNC]
  • ZUP1:zinc finger containing ubiquitin peptidase 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q15-22.2
Genomic location:
Chr6: 92054891 - 118329651 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)
HGVS:
NC_000006.11:g.(?_92054891)_(118329651_?)del
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
SCV002320394ARUP 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

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, SCV002320394.1

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

Last Updated: Oct 14, 2023