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GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 27, 2011
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:
RCV000135630.5

Allele description [Variation Report for GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3]

GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3

Genes:
  • LOC129998868:ATAC-STARR-seq lymphoblastoid active region 26312 [Gene]
  • LOC129998869:ATAC-STARR-seq lymphoblastoid active region 26313 [Gene]
  • LOC129998871:ATAC-STARR-seq lymphoblastoid active region 26314 [Gene]
  • LOC129998873:ATAC-STARR-seq lymphoblastoid active region 26315 [Gene]
  • LOC129998875:ATAC-STARR-seq lymphoblastoid active region 26317 [Gene]
  • LOC129998876:ATAC-STARR-seq lymphoblastoid active region 26318 [Gene]
  • LOC129998877:ATAC-STARR-seq lymphoblastoid active region 26319 [Gene]
  • LOC129998878:ATAC-STARR-seq lymphoblastoid active region 26320 [Gene]
  • LOC129998879:ATAC-STARR-seq lymphoblastoid active region 26321 [Gene]
  • LOC129998880:ATAC-STARR-seq lymphoblastoid active region 26322 [Gene]
  • LOC129998881:ATAC-STARR-seq lymphoblastoid active region 26323 [Gene]
  • LOC129998882:ATAC-STARR-seq lymphoblastoid active region 26324 [Gene]
  • LOC129998883:ATAC-STARR-seq lymphoblastoid active region 26325 [Gene]
  • LOC129998884:ATAC-STARR-seq lymphoblastoid active region 26326 [Gene]
  • LOC129998886:ATAC-STARR-seq lymphoblastoid active region 26328 [Gene]
  • LOC129998887:ATAC-STARR-seq lymphoblastoid active region 26329 [Gene]
  • LOC129998888:ATAC-STARR-seq lymphoblastoid active region 26330 [Gene]
  • LOC129998889:ATAC-STARR-seq lymphoblastoid active region 26331 [Gene]
  • LOC129998890:ATAC-STARR-seq lymphoblastoid active region 26332 [Gene]
  • LOC129998892:ATAC-STARR-seq lymphoblastoid active region 26333 [Gene]
  • LOC129998893:ATAC-STARR-seq lymphoblastoid active region 26334 [Gene]
  • LOC129998895:ATAC-STARR-seq lymphoblastoid active region 26335 [Gene]
  • LOC129998897:ATAC-STARR-seq lymphoblastoid active region 26336 [Gene]
  • LOC129998898:ATAC-STARR-seq lymphoblastoid active region 26337 [Gene]
  • LOC129998899:ATAC-STARR-seq lymphoblastoid active region 26338 [Gene]
  • LOC129998900:ATAC-STARR-seq lymphoblastoid active region 26339 [Gene]
  • LOC129998901:ATAC-STARR-seq lymphoblastoid active region 26340 [Gene]
  • LOC129998904:ATAC-STARR-seq lymphoblastoid active region 26341 [Gene]
  • LOC129998905:ATAC-STARR-seq lymphoblastoid active region 26342 [Gene]
  • LOC129998906:ATAC-STARR-seq lymphoblastoid active region 26343 [Gene]
  • LOC129998913:ATAC-STARR-seq lymphoblastoid active region 26344 [Gene]
  • LOC129998914:ATAC-STARR-seq lymphoblastoid active region 26345 [Gene]
  • LOC129998915:ATAC-STARR-seq lymphoblastoid active region 26346 [Gene]
  • LOC129998916:ATAC-STARR-seq lymphoblastoid active region 26347 [Gene]
  • LOC129998917:ATAC-STARR-seq lymphoblastoid active region 26348 [Gene]
  • LOC129998918:ATAC-STARR-seq lymphoblastoid active region 26349 [Gene]
  • LOC129998919:ATAC-STARR-seq lymphoblastoid active region 26350 [Gene]
  • LOC129998921:ATAC-STARR-seq lymphoblastoid active region 26351 [Gene]
  • LOC129998922:ATAC-STARR-seq lymphoblastoid active region 26352 [Gene]
  • LOC129998923:ATAC-STARR-seq lymphoblastoid active region 26353 [Gene]
  • LOC129998928:ATAC-STARR-seq lymphoblastoid active region 26355 [Gene]
  • LOC129998863:ATAC-STARR-seq lymphoblastoid silent region 18403 [Gene]
  • LOC129998864:ATAC-STARR-seq lymphoblastoid silent region 18404 [Gene]
  • LOC129998865:ATAC-STARR-seq lymphoblastoid silent region 18405 [Gene]
  • LOC129998866:ATAC-STARR-seq lymphoblastoid silent region 18406 [Gene]
  • LOC129998867:ATAC-STARR-seq lymphoblastoid silent region 18407 [Gene]
  • LOC129998870:ATAC-STARR-seq lymphoblastoid silent region 18408 [Gene]
  • LOC129998872:ATAC-STARR-seq lymphoblastoid silent region 18409 [Gene]
  • LOC129998874:ATAC-STARR-seq lymphoblastoid silent region 18410 [Gene]
  • LOC129998885:ATAC-STARR-seq lymphoblastoid silent region 18411 [Gene]
  • LOC129998891:ATAC-STARR-seq lymphoblastoid silent region 18412 [Gene]
  • LOC129998894:ATAC-STARR-seq lymphoblastoid silent region 18414 [Gene]
  • LOC129998896:ATAC-STARR-seq lymphoblastoid silent region 18415 [Gene]
  • LOC129998902:ATAC-STARR-seq lymphoblastoid silent region 18416 [Gene]
  • LOC129998903:ATAC-STARR-seq lymphoblastoid silent region 18417 [Gene]
  • LOC129998907:ATAC-STARR-seq lymphoblastoid silent region 18420 [Gene]
  • LOC129998908:ATAC-STARR-seq lymphoblastoid silent region 18421 [Gene]
  • LOC129998909:ATAC-STARR-seq lymphoblastoid silent region 18422 [Gene]
  • LOC129998910:ATAC-STARR-seq lymphoblastoid silent region 18423 [Gene]
  • LOC129998911:ATAC-STARR-seq lymphoblastoid silent region 18424 [Gene]
  • LOC129998912:ATAC-STARR-seq lymphoblastoid silent region 18425 [Gene]
  • LOC129998920:ATAC-STARR-seq lymphoblastoid silent region 18426 [Gene]
  • LOC129998924:ATAC-STARR-seq lymphoblastoid silent region 18427 [Gene]
  • LOC129998925:ATAC-STARR-seq lymphoblastoid silent region 18428 [Gene]
  • LOC129998926:ATAC-STARR-seq lymphoblastoid silent region 18429 [Gene]
  • LOC129998927:ATAC-STARR-seq lymphoblastoid silent region 18430 [Gene]
  • ATP5MF:ATP synthase membrane subunit f [Gene - OMIM - HGNC]
  • ATP5MF-PTCD1:ATP5MF-PTCD1 readthrough [Gene - HGNC]
  • BUD31:BUD31 homolog [Gene - OMIM - HGNC]
  • LOC126860123:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:99686990-99688189 [Gene]
  • COPS6:COP9 signalosome subunit 6 [Gene - OMIM - HGNC]
  • LOC110366354:CYP3A4 5' regulatory region [Gene]
  • LOC110599592:CYP3A5 promoter [Gene]
  • LOC110599591:CYP3A7 5' regulatory region [Gene]
  • CYP3A7-CYP3A51P:CYP3A7-CYP3A51P readthrough [Gene - HGNC]
  • LOC129389831:MPRA-validated peak6657 silencer [Gene]
  • PDAP1:PDGFA associated protein 1 [Gene - OMIM - HGNC]
  • PVRIG:PVR related immunoglobulin domain containing [Gene - OMIM - HGNC]
  • STAG3:STAG3 cohesin complex component [Gene - OMIM - HGNC]
  • STAG3L5P-PVRIG2P-PILRB:STAG3L5P-PVRIG2P-PILRB readthrough [Gene - HGNC]
  • LOC121740692:Sharpr-MPRA regulatory region 10425 [Gene]
  • LOC121175352:Sharpr-MPRA regulatory region 15167 [Gene]
  • LOC121175353:Sharpr-MPRA regulatory region 1952 [Gene]
  • LOC113748420:Sharpr-MPRA regulatory region 4482 [Gene]
  • LOC123956187:Sharpr-MPRA regulatory region 7718 [Gene]
  • TAF6:TATA-box binding protein associated factor 6 [Gene - OMIM - HGNC]
  • ARPC1A:actin related protein 2/3 complex subunit 1A [Gene - OMIM - HGNC]
  • ARPC1B:actin related protein 2/3 complex subunit 1B [Gene - OMIM - HGNC]
  • AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
  • AZGP1:alpha-2-glycoprotein 1, zinc-binding [Gene - OMIM - HGNC]
  • CNPY4:canopy FGF signaling regulator 4 [Gene - OMIM - HGNC]
  • CPSF4:cleavage and polyadenylation specific factor 4 [Gene - OMIM - HGNC]
  • CYP3A43:cytochrome P450 family 3 subfamily A member 43 [Gene - OMIM - HGNC]
  • CYP3A4:cytochrome P450 family 3 subfamily A member 4 [Gene - OMIM - HGNC]
  • CYP3A5:cytochrome P450 family 3 subfamily A member 5 [Gene - OMIM - HGNC]
  • CYP3A7:cytochrome P450 family 3 subfamily A member 7 [Gene - OMIM - HGNC]
  • LOC110366355:enhancer in intron 10 of CYP3A4 [Gene]
  • FAM200A:family with sequence similarity 200 member A [Gene - HGNC]
  • GAL3ST4:galactose-3-O-sulfotransferase 4 [Gene - OMIM - HGNC]
  • GJC3:gap junction protein gamma 3 [Gene - OMIM - HGNC]
  • GPC2:glypican 2 [Gene - OMIM - HGNC]
  • KPNA7:karyopherin subunit alpha 7 [Gene - OMIM - HGNC]
  • LAMTOR4:late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 [Gene - OMIM - HGNC]
  • MBLAC1:metallo-beta-lactamase domain containing 1 [Gene - HGNC]
  • MIR106B:microRNA 106b [Gene - OMIM - HGNC]
  • MIR12119:microRNA 12119 [Gene - HGNC]
  • MIR25:microRNA 25 [Gene - OMIM - HGNC]
  • MIR4658:microRNA 4658 [Gene - HGNC]
  • MIR93:microRNA 93 [Gene - OMIM - HGNC]
  • MCM7:minichromosome maintenance complex component 7 [Gene - OMIM - HGNC]
  • OR2AE1:olfactory receptor family 2 subfamily AE member 1 [Gene - HGNC]
  • PTCD1:pentatricopeptide repeat domain 1 [Gene - OMIM - HGNC]
  • SPDYE3:speedy/RINGO cell cycle regulator family member E3 [Gene - OMIM - HGNC]
  • TRW-CCA5-1:tRNA-Trp (anticodon CCA) 5-1 [Gene - HGNC]
  • TRAPPC14:trafficking protein particle complex subunit 14 [Gene - OMIM - HGNC]
  • TMEM225B:transmembrane protein 225B [Gene - HGNC]
  • TRIM4:tripartite motif containing 4 [Gene - HGNC]
  • LOC105375423:uncharacterized LOC105375423 [Gene]
  • ZSCAN21:zinc finger and SCAN domain containing 21 [Gene - OMIM - HGNC]
  • ZSCAN25:zinc finger and SCAN domain containing 25 [Gene - HGNC]
  • ZNF394:zinc finger protein 394 [Gene - OMIM - HGNC]
  • ZNF3:zinc finger protein 3 [Gene - OMIM - HGNC]
  • ZNF655:zinc finger protein 655 [Gene - OMIM - HGNC]
  • ZNF789:zinc finger protein 789 [Gene - HGNC]
  • ZKSCAN1:zinc finger with KRAB and SCAN domains 1 [Gene - OMIM - HGNC]
  • ZKSCAN5:zinc finger with KRAB and SCAN domains 5 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3
HGVS:
  • NC_000007.14:g.(?_99195836)_(100348063_?)dup
  • NC_000007.12:g.(?_98631395)_(99783622_?)dup
  • NC_000007.13:g.(?_98793459)_(99945686_?)dup
Links:
dbVar: nssv706358; dbVar: nsv530471
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
SCV000175512ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jan 27, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000175512.4

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

Last Updated: May 7, 2024