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GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2014
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:
RCV000511703.3

Allele description [Variation Report for GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1]

GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1

Genes:
  • ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
  • CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • DNAJA3:DnaJ heat shock protein family (Hsp40) member A3 [Gene - OMIM - HGNC]
  • GLIS2:GLIS family zinc finger 2 [Gene - OMIM - HGNC]
  • MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • NAGPA:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • NMRAL1:NmrA like redox sensor 1 [Gene - OMIM - HGNC]
  • RBFOX1:RNA binding fox-1 homolog 1 [Gene - OMIM - HGNC]
  • SEC14L5:SEC14 like lipid binding 5 [Gene - OMIM - HGNC]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • UBALD1:UBA like domain containing 1 [Gene - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • ANKS3:ankyrin repeat and sterile alpha motif domain containing 3 [Gene - OMIM - HGNC]
  • CDIP1:cell death inducing p53 target 1 [Gene - OMIM - HGNC]
  • C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • C16orf96:chromosome 16 open reading frame 96 [Gene - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • CORO7:coronin 7 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • DNAAF8:dynein axonemal assembly factor 8 [Gene - HGNC]
  • EEF2KMT:eukaryotic elongation factor 2 lysine methyltransferase [Gene - OMIM - HGNC]
  • GLYR1:glyoxylate reductase 1 homolog [Gene - OMIM - HGNC]
  • HMOX2:heme oxygenase 2 [Gene - OMIM - HGNC]
  • MGRN1:mahogunin ring finger 1 [Gene - OMIM - HGNC]
  • NUDT16L1:nudix hydrolase 16 like 1 [Gene - OMIM - HGNC]
  • OR1F1:olfactory receptor family 1 subfamily F member 1 [Gene - OMIM - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • PPL:periplakin [Gene - OMIM - HGNC]
  • PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
  • ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
  • SRL:sarcalumenin [Gene - OMIM - HGNC]
  • SEPTIN12:septin 12 [Gene - OMIM - HGNC]
  • SMIM22:small integral membrane protein 22 [Gene - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • TFAP4:transcription factor AP-4 [Gene - OMIM - HGNC]
  • UBN1:ubinuclein 1 [Gene - OMIM - HGNC]
  • VASN:vasorin [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF200:zinc finger protein 200 [Gene - OMIM - HGNC]
  • ZNF205:zinc finger protein 205 [Gene - OMIM - HGNC]
  • ZNF213:zinc finger protein 213 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF500:zinc finger protein 500 [Gene - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Chr16: 3146027 - 6362229 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1
HGVS:
NC_000016.9:g.(?_3146027)_(6362229_?)del
Links:
dbVar: nssv13638877; dbVar: nsv2778848
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000586120ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 12, 2014) 		unknownclinical testing

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

Help

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 1, SCV000586120.1

#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