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GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 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:
RCV001007118.1

Allele description [Variation Report for GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1]

GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1

Genes:
  • ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
  • ADAMTS5:ADAM metallopeptidase with thrombospondin type 1 motif 5 [Gene - OMIM - HGNC]
  • BACH1:BTB domain and CNC homolog 1 [Gene - OMIM - HGNC]
  • MAP3K7CL:MAP3K7 C-terminal like [Gene - OMIM - HGNC]
  • N6AMT1:N-6 adenine-specific DNA methyltransferase 1 [Gene - OMIM - HGNC]
  • RWDD2B:RWD domain containing 2B [Gene - OMIM - HGNC]
  • CCT8:chaperonin containing TCP1 subunit 8 [Gene - OMIM - HGNC]
  • CLDN17:claudin 17 [Gene - OMIM - HGNC]
  • CLDN8:claudin 8 [Gene - OMIM - HGNC]
  • CYYR1:cysteine and tyrosine rich 1 [Gene - OMIM - HGNC]
  • GRIK1:glutamate ionotropic receptor kainate type subunit 1 [Gene - OMIM - HGNC]
  • KRTAP11-1:keratin associated protein 11-1 [Gene - OMIM - HGNC]
  • KRTAP13-1:keratin associated protein 13-1 [Gene - OMIM - HGNC]
  • KRTAP13-2:keratin associated protein 13-2 [Gene - HGNC]
  • KRTAP13-3:keratin associated protein 13-3 [Gene - HGNC]
  • KRTAP13-4:keratin associated protein 13-4 [Gene - HGNC]
  • KRTAP15-1:keratin associated protein 15-1 [Gene - HGNC]
  • KRTAP19-1:keratin associated protein 19-1 [Gene - HGNC]
  • KRTAP19-2:keratin associated protein 19-2 [Gene - HGNC]
  • KRTAP19-3:keratin associated protein 19-3 [Gene - HGNC]
  • KRTAP19-4:keratin associated protein 19-4 [Gene - HGNC]
  • KRTAP19-5:keratin associated protein 19-5 [Gene - HGNC]
  • KRTAP19-6:keratin associated protein 19-6 [Gene - HGNC]
  • KRTAP19-7:keratin associated protein 19-7 [Gene - HGNC]
  • KRTAP19-8:keratin associated protein 19-8 [Gene - HGNC]
  • KRTAP20-1:keratin associated protein 20-1 [Gene - HGNC]
  • KRTAP20-2:keratin associated protein 20-2 [Gene - HGNC]
  • KRTAP20-3:keratin associated protein 20-3 [Gene - HGNC]
  • KRTAP20-4:keratin associated protein 20-4 [Gene - HGNC]
  • KRTAP21-1:keratin associated protein 21-1 [Gene - HGNC]
  • KRTAP21-2:keratin associated protein 21-2 [Gene - HGNC]
  • KRTAP21-3:keratin associated protein 21-3 [Gene - HGNC]
  • KRTAP22-1:keratin associated protein 22-1 [Gene - HGNC]
  • KRTAP22-2:keratin associated protein 22-2 [Gene - HGNC]
  • KRTAP23-1:keratin associated protein 23-1 [Gene - HGNC]
  • KRTAP24-1:keratin associated protein 24-1 [Gene - OMIM - HGNC]
  • KRTAP25-1:keratin associated protein 25-1 [Gene - HGNC]
  • KRTAP26-1:keratin associated protein 26-1 [Gene - HGNC]
  • KRTAP27-1:keratin associated protein 27-1 [Gene - HGNC]
  • KRTAP6-1:keratin associated protein 6-1 [Gene - HGNC]
  • KRTAP6-2:keratin associated protein 6-2 [Gene - HGNC]
  • KRTAP6-3:keratin associated protein 6-3 [Gene - HGNC]
  • KRTAP7-1:keratin associated protein 7-1 [Gene - HGNC]
  • KRTAP8-1:keratin associated protein 8-1 [Gene - HGNC]
  • LTN1:listerin E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • USP16:ubiquitin specific peptidase 16 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
21q21.3-22.11
Genomic location:
Chr21: 27826100 - 32468109 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1
HGVS:
NC_000021.8:g.(?_27826100)_(32468109_?)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
SCV001166685Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Nov 15, 2018)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001166685.1

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

Last Updated: Apr 23, 2022