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GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2021
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:
RCV001827895.1

Allele description [Variation Report for GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1]

GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1

Genes:
  • ATP6V1C2:ATPase H+ transporting V1 subunit C2 [Gene - OMIM - HGNC]
  • E2F6:E2F transcription factor 6 [Gene - OMIM - HGNC]
  • KLF11:Kruppel like factor 11 [Gene - OMIM - HGNC]
  • ROCK2:Rho associated coiled-coil containing protein kinase 2 [Gene - OMIM - HGNC]
  • TAF1B:TATA-box binding protein associated factor, RNA polymerase I subunit B [Gene - OMIM - HGNC]
  • C2orf48:chromosome 2 open reading frame 48 [Gene - HGNC]
  • C2orf50:chromosome 2 open reading frame 50 [Gene - HGNC]
  • CYS1:cystin 1 [Gene - OMIM - HGNC]
  • GRHL1:grainyhead like transcription factor 1 [Gene - OMIM - HGNC]
  • GREB1:growth regulating estrogen receptor binding 1 [Gene - OMIM - HGNC]
  • HPCAL1:hippocalcin like 1 [Gene - OMIM - HGNC]
  • LPIN1:lipin 1 [Gene - OMIM - HGNC]
  • LINC00570:long intergenic non-protein coding RNA 570 [Gene - HGNC]
  • NTSR2:neurotensin receptor 2 [Gene - OMIM - HGNC]
  • NOL10:nucleolar protein 10 [Gene - OMIM - HGNC]
  • ODC1:ornithine decarboxylase 1 [Gene - OMIM - HGNC]
  • KCNF1:potassium voltage-gated channel modifier subfamily F member 1 [Gene - OMIM - HGNC]
  • PDIA6:protein disulfide isomerase family A member 6 [Gene - OMIM - HGNC]
  • RRM2:ribonucleotide reductase regulatory subunit M2 [Gene - OMIM - HGNC]
  • SLC66A3:solute carrier family 66 member 3 [Gene - HGNC]
  • YWHAQ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2p25.1
Genomic location:
Chr2: 9717186 - 12013065 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1
HGVS:
NC_000002.11:g.(?_9717186)_(12013065_?)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
SCV002096561Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Uncertain significance
(Jan 20, 2021)
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, SCV002096561.1

#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: May 11, 2022