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GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 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:
RCV000848701.2

Allele description [Variation Report for GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1]

GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1

Genes:
  • NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
  • FYN:FYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GPRC6A:G protein-coupled receptor class C group 6 member A [Gene - OMIM - HGNC]
  • NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [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]
  • 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]
  • AMD1:adenosylmethionine decarboxylase 1 [Gene - OMIM - HGNC]
  • ASF1A:anti-silencing function 1A histone chaperone [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]
  • CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
  • CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
  • COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]
  • CDK19:cyclin dependent kinase 19 [Gene - OMIM - HGNC]
  • DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
  • DCBLD1:discoidin, CUB and LCCL domain containing 1 [Gene - HGNC]
  • FAM162B:family with sequence similarity 162 member B [Gene - HGNC]
  • FAM184A:family with sequence similarity 184 member A [Gene - HGNC]
  • FAM229B:family with sequence similarity 229 member B [Gene - HGNC]
  • FRK:fyn related Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GTF3C6:general transcription factor IIIC subunit 6 [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]
  • LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
  • MFSD4B:major facilitator superfamily domain containing 4B [Gene - OMIM - HGNC]
  • MAN1A1:mannosidase alpha class 1A member 1 [Gene - OMIM - HGNC]
  • MCM9:minichromosome maintenance 9 homologous recombination repair factor [Gene - OMIM - HGNC]
  • MARCKS:myristoylated alanine rich protein kinase C substrate [Gene - OMIM - HGNC]
  • PLN:phospholamban [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]
  • RPF2:ribosome production factor 2 homolog [Gene - OMIM - HGNC]
  • SLC16A10:solute carrier family 16 member 10 [Gene - OMIM - HGNC]
  • SLC35F1:solute carrier family 35 member F1 [Gene - OMIM - HGNC]
  • TRAPPC3L:trafficking protein particle complex subunit 3L [Gene - OMIM - HGNC]
  • TUBE1:tubulin epsilon 1 [Gene - OMIM - HGNC]
  • VGLL2:vestigial like family member 2 [Gene - OMIM - HGNC]
  • ZUP1:zinc finger containing ubiquitin peptidase 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q21-22.31
Genomic location:
Chr6: 110981075 - 119608396 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1
HGVS:
NC_000006.11:g.(?_110981075)_(119608396_?)del

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
SCV000990843Bionano Laboratories
no assertion criteria provided
Pathogenic
(Feb 28, 2018)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000990843.1

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

Last Updated: Oct 14, 2023