GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2017
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:
RCV000847705.2

Allele description [Variation Report for GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1]

GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1

Genes:
  • EPHA2:EPH receptor A2 [Gene - OMIM - HGNC]
  • FBXO42:F-box protein 42 [Gene - OMIM - HGNC]
  • ARHGEF19:Rho guanine nucleotide exchange factor 19 [Gene - OMIM - HGNC]
  • SZRD1:SUZ RNA binding domain containing 1 [Gene - HGNC]
  • CLCNKA:chloride voltage-gated channel Ka [Gene - OMIM - HGNC]
  • CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]
  • CPLANE2:ciliogenesis and planar polarity effector complex subunit 2 [Gene - HGNC]
  • FAM131C:family with sequence similarity 131 member C [Gene - HGNC]
  • FBLIM1:filamin binding LIM protein 1 [Gene - OMIM - HGNC]
  • HSPB7:heat shock protein family B (small) member 7 [Gene - OMIM - HGNC]
  • SPEN:spen family transcriptional repressor [Gene - OMIM - HGNC]
  • SPATA21:spermatogenesis associated 21 [Gene - HGNC]
  • SRARP:steroid receptor associated and regulated protein [Gene - OMIM - HGNC]
  • ZBTB17:zinc finger and BTB domain containing 17 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.21-36.13
Genomic location:
Chr1: 16096742 - 16725355 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1
HGVS:
NC_000001.10:g.(?_16096742)_(16725355_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000989827Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Aug 11, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000989827.1

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

Last Updated: Mar 26, 2023