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GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV001836486.1

Allele description [Variation Report for GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1]

GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1

Genes:
  • ACCSL:1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like [Gene - HGNC]
  • ACCS:1-aminocyclopropane-1-carboxylate synthase homolog (inactive) [Gene - OMIM - HGNC]
  • ALX4:ALX homeobox 4 [Gene - OMIM - HGNC]
  • CD82:CD82 molecule [Gene - OMIM - HGNC]
  • FREY1:Frey regulator of sperm-oocyte fusion 1 [Gene - HGNC]
  • LARGE2:LARGE xylosyl- and glucuronyltransferase 2 [Gene - OMIM - HGNC]
  • LRP4:LDL receptor related protein 4 [Gene - OMIM - HGNC]
  • PHF21A:PHD finger protein 21A [Gene - OMIM - HGNC]
  • PRDM11:PR/SET domain 11 [Gene - OMIM - HGNC]
  • ARHGAP1:Rho GTPase activating protein 1 [Gene - OMIM - HGNC]
  • ALKBH3:alkB homolog 3, alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • API5:apoptosis inhibitor 5 [Gene - OMIM - HGNC]
  • AMBRA1:autophagy and beclin 1 regulator 1 [Gene - OMIM - HGNC]
  • ATG13:autophagy related 13 [Gene - OMIM - HGNC]
  • CREB3L1:cAMP responsive element binding protein 3 like 1 [Gene - OMIM - HGNC]
  • CHST1:carbohydrate sulfotransferase 1 [Gene - OMIM - HGNC]
  • CHRM4:cholinergic receptor muscarinic 4 [Gene - OMIM - HGNC]
  • C11orf96:chromosome 11 open reading frame 96 [Gene - HGNC]
  • F2:coagulation factor II, thrombin [Gene - OMIM - HGNC]
  • CRY2:cryptochrome circadian regulator 2 [Gene - OMIM - HGNC]
  • CKAP5:cytoskeleton associated protein 5 [Gene - OMIM - HGNC]
  • DGKZ:diacylglycerol kinase zeta [Gene - OMIM - HGNC]
  • EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
  • HARBI1:harbinger transposase derived 1 [Gene - OMIM - HGNC]
  • HSD17B12:hydroxysteroid 17-beta dehydrogenase 12 [Gene - OMIM - HGNC]
  • LRRC4C:leucine rich repeat containing 4C [Gene - OMIM - HGNC]
  • MDK:midkine [Gene - OMIM - HGNC]
  • MAPK8IP1:mitogen-activated protein kinase 8 interacting protein 1 [Gene - OMIM - HGNC]
  • PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]
  • SLC35C1:solute carrier family 35 member C1 [Gene - OMIM - HGNC]
  • SYT13:synaptotagmin 13 [Gene - OMIM - HGNC]
  • TSPAN18:tetraspanin 18 [Gene - OMIM - HGNC]
  • TTC17:tetratricopeptide repeat domain 17 [Gene - OMIM - HGNC]
  • TP53I11:tumor protein p53 inducible protein 11 [Gene - OMIM - HGNC]
  • ZNF408:zinc finger protein 408 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p12-11.2
Genomic location:
Chr11: 40117145 - 46920718 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1
HGVS:
NC_000011.9:g.(?_40117145)_(46920718_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002095983Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 1, 2021) 		germlineclinical testing

Help

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, SCV002095983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This imbalance is expected to cause phenotypic and/or developmental abnormalities. The deleted segment encompasses the Potocki-Shaffer syndrome (OMIM #601224) region which is a rare contiguous gene deletion syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, sensorineural hearing loss, autistic behaviors, multiple exostoses, and biparietal foramina (Swarr et al., Am J Med Genet A. 2010 Mar;152A(3):565-72; PMID: 20140962).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024