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GRCh37/hg19 6p21.33(chr6:31384577-31902308) AND not specified

Germline classification:
Uncertain significance (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:
RCV002053564.3

Allele description [Variation Report for GRCh37/hg19 6p21.33(chr6:31384577-31902308)]

GRCh37/hg19 6p21.33(chr6:31384577-31902308)

Genes:
  • ATP6V1G2:ATPase H+ transporting V1 subunit G2 [Gene - OMIM - HGNC]
  • BAG6:BAG cochaperone 6 [Gene - OMIM - HGNC]
  • DDX39B:DExD-box helicase 39B [Gene - OMIM - HGNC]
  • GPANK1:G-patch domain and ankyrin repeats 1 [Gene - OMIM - HGNC]
  • HCP5:HLA complex P5 [Gene - OMIM - HGNC]
  • HCG26:HLA complex group 26 [Gene - HGNC]
  • LSM2:LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MICB:MHC class I polypeptide-related sequence B [Gene - OMIM - HGNC]
  • NFKBIL1:NFKB inhibitor like 1 [Gene - OMIM - HGNC]
  • ABHD16A:abhydrolase domain containing 16A, phospholipase [Gene - OMIM - HGNC]
  • AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
  • APOM:apolipoprotein M [Gene - OMIM - HGNC]
  • CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
  • CLIC1:chloride intracellular channel 1 [Gene - OMIM - HGNC]
  • C6orf47:chromosome 6 open reading frame 47 [Gene - HGNC]
  • C2:complement C2 [Gene - OMIM - HGNC]
  • DDAH2:dimethylarginine dimethylaminohydrolase 2 [Gene - OMIM - HGNC]
  • EHMT2:euchromatic histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • HSPA1L:heat shock protein family A (Hsp70) member 1 like [Gene - OMIM - HGNC]
  • HSPA1A:heat shock protein family A (Hsp70) member 1A [Gene - OMIM - HGNC]
  • HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
  • LST1:leukocyte specific transcript 1 [Gene - OMIM - HGNC]
  • LY6G5B:lymphocyte antigen 6 family member G5B [Gene - OMIM - HGNC]
  • LY6G5C:lymphocyte antigen 6 family member G5C [Gene - OMIM - HGNC]
  • LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
  • LY6G6D:lymphocyte antigen 6 family member G6D [Gene - OMIM - HGNC]
  • LY6G6F:lymphocyte antigen 6 family member G6F [Gene - OMIM - HGNC]
  • LTA:lymphotoxin alpha [Gene - OMIM - HGNC]
  • LTB:lymphotoxin beta [Gene - OMIM - HGNC]
  • MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]
  • MCCD1:mitochondrial coiled-coil domain 1 [Gene - OMIM - HGNC]
  • MSH5:mutS homolog 5 [Gene - OMIM - HGNC]
  • NCR3:natural cytotoxicity triggering receptor 3 [Gene - OMIM - HGNC]
  • NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
  • PRRC2A:proline rich coiled-coil 2A [Gene - OMIM - HGNC]
  • SNHG32:small nucleolar RNA host gene 32 [Gene - OMIM - HGNC]
  • SLC44A4:solute carrier family 44 member 4 [Gene - OMIM - HGNC]
  • SAPCD1:suppressor APC domain containing 1 [Gene - HGNC]
  • TNF:tumor necrosis factor [Gene - OMIM - HGNC]
  • VARS1:valyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • VWA7:von Willebrand factor A domain containing 7 [Gene - OMIM - HGNC]
  • ZBTB12:zinc finger and BTB domain containing 12 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p21.33
Genomic location:
Chr6: 31384577 - 31902308 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p21.33(chr6:31384577-31902308)
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
SCV002320360ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Uncertain significance
(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, SCV002320360.1

#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