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GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV000447334.4

Allele description [Variation Report for GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1]

GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1

Genes:
  • CDCP2:CUB domain containing protein 2 [Gene - OMIM - HGNC]
  • CZIB:CXXC motif containing zinc binding protein [Gene - HGNC]
  • DMRTB1:DMRT like family B with proline rich C-terminal 1 [Gene - OMIM - HGNC]
  • GLIS1:GLIS family zinc finger 1 [Gene - OMIM - HGNC]
  • KTI12:KTI12 chromatin associated homolog [Gene - HGNC]
  • LRP8:LDL receptor related protein 8 [Gene - OMIM - HGNC]
  • NDC1:NDC1 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • RAB3B:RAB3B, member RAS oncogene family [Gene - OMIM - HGNC]
  • YIPF1:Yip1 domain family member 1 [Gene - OMIM - HGNC]
  • ACOT11:acyl-CoA thioesterase 11 [Gene - OMIM - HGNC]
  • BTF3L4:basic transcription factor 3 like 4 [Gene - HGNC]
  • CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • CC2D1B:coiled-coil and C2 domain containing 1B [Gene - HGNC]
  • CYB5RL:cytochrome b5 reductase like [Gene - HGNC]
  • COA7:cytochrome c oxidase assembly factor 7 [Gene - OMIM - HGNC]
  • ECHDC2:enoyl-CoA hydratase domain containing 2 [Gene - OMIM - HGNC]
  • EPS15:epidermal growth factor receptor pathway substrate 15 [Gene - OMIM - HGNC]
  • FAM151A:family with sequence similarity 151 member A [Gene - HGNC]
  • GPX7:glutathione peroxidase 7 [Gene - OMIM - HGNC]
  • IFT25:intraflagellar transport 25 [Gene - HGNC]
  • DIO1:iodothyronine deiodinase 1 [Gene - OMIM - HGNC]
  • LRRC42:leucine rich repeat containing 42 [Gene - HGNC]
  • LDLRAD1:low density lipoprotein receptor class A domain containing 1 [Gene - HGNC]
  • MROH7:maestro heat like repeat family member 7 [Gene - HGNC]
  • MAGOH:mago homolog, exon junction complex subunit [Gene - OMIM - HGNC]
  • MRPL37:mitochondrial ribosomal protein L37 [Gene - OMIM - HGNC]
  • NRDC:nardilysin convertase [Gene - OMIM - HGNC]
  • ORC1:origin recognition complex subunit 1 [Gene - OMIM - HGNC]
  • OSBPL9:oxysterol binding protein like 9 [Gene - OMIM - HGNC]
  • PODN:podocan [Gene - OMIM - HGNC]
  • PRPF38A:pre-mRNA processing factor 38A [Gene - OMIM - HGNC]
  • RNF11:ring finger protein 11 [Gene - OMIM - HGNC]
  • SHISAL2A:shisa like 2A [Gene - OMIM - HGNC]
  • SSBP3:single stranded DNA binding protein 3 [Gene - OMIM - HGNC]
  • SLC1A7:solute carrier family 1 member 7 [Gene - OMIM - HGNC]
  • SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]
  • TUT4:terminal uridylyl transferase 4 [Gene - OMIM - HGNC]
  • TTC39A:tetratricopeptide repeat domain 39A [Gene - OMIM - HGNC]
  • TXNDC12:thioredoxin domain containing 12 [Gene - OMIM - HGNC]
  • TCEANC2:transcription elongation factor A N-terminal and central domain containing 2 [Gene - HGNC]
  • TMEM59:transmembrane protein 59 [Gene - OMIM - HGNC]
  • ZFYVE9:zinc finger FYVE-type containing 9 [Gene - OMIM - HGNC]
  • ZYG11A:zyg-11 family member A, cell cycle regulator [Gene - OMIM - HGNC]
  • ZYG11B:zyg-11 family member B, cell cycle regulator [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p32.3
Genomic location:
Chr1: 51729573 - 55164001 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1
HGVS:
NC_000001.10:g.(?_51729573)_(55164001_?)del
Links:
dbVar: nssv13653083; dbVar: nsv2770550
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000499582ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA Site 6, SCV000499582.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024