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GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) AND 5p partial monosomy syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
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:
RCV000767709.1

Allele description [Variation Report for GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)]

GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)

Genes:
  • MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
  • ADAMTS16:ADAM metallopeptidase with thrombospondin type 1 motif 16 [Gene - OMIM - HGNC]
  • ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
  • ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
  • CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
  • FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
  • FASTKD3:FAST kinase domains 3 [Gene - OMIM - HGNC]
  • IRX2-DT:IRX2 divergent transcript [Gene - OMIM - HGNC]
  • NDUFS6:NADH:ubiquinone oxidoreductase subunit S6 [Gene - OMIM - HGNC]
  • NKD2:NKD inhibitor of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • NSUN2:NOP2/Sun RNA methyltransferase 2 [Gene - OMIM - HGNC]
  • OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
  • OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
  • OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
  • PRDM9:PR/SET domain 9 [Gene - OMIM - HGNC]
  • ADCY2:adenylate cyclase 2 [Gene - OMIM - HGNC]
  • ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CDH10:cadherin 10 [Gene - OMIM - HGNC]
  • CDH12:cadherin 12 [Gene - OMIM - HGNC]
  • CDH18:cadherin 18 [Gene - OMIM - HGNC]
  • CDH9:cadherin 9 [Gene - OMIM - HGNC]
  • CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
  • CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
  • CFAP90:cilia and flagella associated protein 90 [Gene - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • DAP:death associated protein [Gene - OMIM - HGNC]
  • DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
  • EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
  • ICE1:interactor of little elongation complex ELL subunit 1 [Gene - OMIM - HGNC]
  • IRX1:iroquois homeobox 1 [Gene - OMIM - HGNC]
  • IRX2:iroquois homeobox 2 [Gene - OMIM - HGNC]
  • IRX4:iroquois homeobox 4 [Gene - OMIM - HGNC]
  • LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
  • LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
  • LINC02899:long intergenic non-protein coding RNA 2899 [Gene - HGNC]
  • LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
  • MED10:mediator complex subunit 10 [Gene - OMIM - HGNC]
  • MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
  • MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
  • MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
  • MYO10:myosin X [Gene - OMIM - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - HGNC]
  • PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
  • SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
  • SLC12A7:solute carrier family 12 member 7 [Gene - OMIM - HGNC]
  • SLC6A18:solute carrier family 6 member 18 [Gene - OMIM - HGNC]
  • SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]
  • SLC6A3:solute carrier family 6 member 3 [Gene - OMIM - HGNC]
  • SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
  • SRD5A1:steroid 5 alpha-reductase 1 [Gene - OMIM - HGNC]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
  • TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
  • TENT4A:terminal nucleotidyltransferase 4A [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • UBE2QL1:ubiquitin conjugating enzyme E2 Q family like 1 [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33-14.1
Genomic location:
Chr5: 140474 - 26906925 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)
HGVS:
NC_000005.9:g.(?_140474)_(26906925_?)del
Observations:
1

Condition(s)

Name:
5p partial monosomy syndrome
Synonyms:
Cat cry syndrome; 5p minus syndrome; Chromosome 5p deletion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007404; MedGen: C0010314; Orphanet: 281; OMIM: 123450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898331Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023