U.S. flag

An official website of the United States government

Single allele AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2021
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:
RCV002286382.1

Allele description [Variation Report for Single allele]

Genes:
  • LOC130008044:ATAC-STARR-seq lymphoblastoid active region 6468 [Gene]
  • LOC130008045:ATAC-STARR-seq lymphoblastoid active region 6469 [Gene]
  • LOC130008046:ATAC-STARR-seq lymphoblastoid active region 6470 [Gene]
  • LOC130008047:ATAC-STARR-seq lymphoblastoid active region 6471 [Gene]
  • LOC130008049:ATAC-STARR-seq lymphoblastoid active region 6472 [Gene]
  • LOC130008050:ATAC-STARR-seq lymphoblastoid active region 6474 [Gene]
  • LOC130008051:ATAC-STARR-seq lymphoblastoid active region 6475 [Gene]
  • LOC130008052:ATAC-STARR-seq lymphoblastoid active region 6476 [Gene]
  • LOC130008053:ATAC-STARR-seq lymphoblastoid active region 6477 [Gene]
  • LOC130008056:ATAC-STARR-seq lymphoblastoid active region 6478 [Gene]
  • LOC130008057:ATAC-STARR-seq lymphoblastoid active region 6479 [Gene]
  • LOC130008060:ATAC-STARR-seq lymphoblastoid active region 6480 [Gene]
  • LOC130008062:ATAC-STARR-seq lymphoblastoid active region 6481 [Gene]
  • LOC130008064:ATAC-STARR-seq lymphoblastoid active region 6483 [Gene]
  • LOC130008065:ATAC-STARR-seq lymphoblastoid active region 6484 [Gene]
  • LOC130008069:ATAC-STARR-seq lymphoblastoid active region 6485 [Gene]
  • LOC130008070:ATAC-STARR-seq lymphoblastoid active region 6486 [Gene]
  • LOC130008073:ATAC-STARR-seq lymphoblastoid active region 6488 [Gene]
  • LOC130008074:ATAC-STARR-seq lymphoblastoid active region 6491 [Gene]
  • LOC130008076:ATAC-STARR-seq lymphoblastoid active region 6493 [Gene]
  • LOC130008077:ATAC-STARR-seq lymphoblastoid active region 6494 [Gene]
  • LOC130008078:ATAC-STARR-seq lymphoblastoid active region 6495 [Gene]
  • LOC130008079:ATAC-STARR-seq lymphoblastoid active region 6496 [Gene]
  • LOC130008080:ATAC-STARR-seq lymphoblastoid active region 6497 [Gene]
  • LOC130008081:ATAC-STARR-seq lymphoblastoid active region 6498 [Gene]
  • LOC130008082:ATAC-STARR-seq lymphoblastoid active region 6499 [Gene]
  • LOC130008083:ATAC-STARR-seq lymphoblastoid active region 6500 [Gene]
  • LOC130008084:ATAC-STARR-seq lymphoblastoid active region 6501 [Gene]
  • LOC130008085:ATAC-STARR-seq lymphoblastoid active region 6502 [Gene]
  • LOC130008087:ATAC-STARR-seq lymphoblastoid active region 6503 [Gene]
  • LOC130008089:ATAC-STARR-seq lymphoblastoid active region 6504 [Gene]
  • LOC130008090:ATAC-STARR-seq lymphoblastoid active region 6505 [Gene]
  • LOC130008091:ATAC-STARR-seq lymphoblastoid active region 6506 [Gene]
  • LOC130008092:ATAC-STARR-seq lymphoblastoid active region 6507 [Gene]
  • LOC130008094:ATAC-STARR-seq lymphoblastoid active region 6509 [Gene]
  • LOC130008095:ATAC-STARR-seq lymphoblastoid active region 6511 [Gene]
  • LOC130008097:ATAC-STARR-seq lymphoblastoid active region 6512 [Gene]
  • LOC130008099:ATAC-STARR-seq lymphoblastoid active region 6513 [Gene]
  • LOC130008100:ATAC-STARR-seq lymphoblastoid active region 6514 [Gene]
  • LOC130008101:ATAC-STARR-seq lymphoblastoid active region 6515 [Gene]
  • LOC130008102:ATAC-STARR-seq lymphoblastoid active region 6516 [Gene]
  • LOC130008103:ATAC-STARR-seq lymphoblastoid active region 6517 [Gene]
  • LOC130008104:ATAC-STARR-seq lymphoblastoid active region 6518 [Gene]
  • LOC130008105:ATAC-STARR-seq lymphoblastoid active region 6519 [Gene]
  • LOC130008042:ATAC-STARR-seq lymphoblastoid silent region 4541 [Gene]
  • LOC130008043:ATAC-STARR-seq lymphoblastoid silent region 4542 [Gene]
  • LOC130008048:ATAC-STARR-seq lymphoblastoid silent region 4544 [Gene]
  • LOC130008054:ATAC-STARR-seq lymphoblastoid silent region 4546 [Gene]
  • LOC130008055:ATAC-STARR-seq lymphoblastoid silent region 4547 [Gene]
  • LOC130008058:ATAC-STARR-seq lymphoblastoid silent region 4548 [Gene]
  • LOC130008059:ATAC-STARR-seq lymphoblastoid silent region 4549 [Gene]
  • LOC130008061:ATAC-STARR-seq lymphoblastoid silent region 4550 [Gene]
  • LOC130008063:ATAC-STARR-seq lymphoblastoid silent region 4551 [Gene]
  • LOC130008066:ATAC-STARR-seq lymphoblastoid silent region 4552 [Gene]
  • LOC130008067:ATAC-STARR-seq lymphoblastoid silent region 4553 [Gene]
  • LOC130008068:ATAC-STARR-seq lymphoblastoid silent region 4554 [Gene]
  • LOC130008071:ATAC-STARR-seq lymphoblastoid silent region 4556 [Gene]
  • LOC130008072:ATAC-STARR-seq lymphoblastoid silent region 4557 [Gene]
  • LOC130008075:ATAC-STARR-seq lymphoblastoid silent region 4558 [Gene]
  • LOC130008086:ATAC-STARR-seq lymphoblastoid silent region 4559 [Gene]
  • LOC130008088:ATAC-STARR-seq lymphoblastoid silent region 4561 [Gene]
  • LOC130008093:ATAC-STARR-seq lymphoblastoid silent region 4562 [Gene]
  • LOC130008096:ATAC-STARR-seq lymphoblastoid silent region 4563 [Gene]
  • LOC130008098:ATAC-STARR-seq lymphoblastoid silent region 4564 [Gene]
  • ATP5F1B:ATP synthase F1 subunit beta [Gene - OMIM - HGNC]
  • LOC126861536:BRD4-independent group 4 enhancer GRCh37_chr12:56536437-56537636 [Gene]
  • LOC124629374:BRD4-independent group 4 enhancer GRCh37_chr12:56731981-56733180 [Gene]
  • LOC126861537:BRD4-independent group 4 enhancer GRCh37_chr12:56817170-56818369 [Gene]
  • LOC116268441:CRISPRi-validated cis-regulatory element chr12.2135 [Gene]
  • PRIM1:DNA primase subunit 1 [Gene - OMIM - HGNC]
  • IKZF4:IKAROS family zinc finger 4 [Gene - OMIM - HGNC]
  • LOC129390463:MPRA-validated peak1741 silencer [Gene]
  • LOC129390464:MPRA-validated peak1742 silencer [Gene]
  • LOC129390465:MPRA-validated peak1743 silencer [Gene]
  • MYL6B-AS1:MYL6B antisense RNA 1 [Gene - HGNC]
  • LOC132090122:Neanderthal introgressed variant-containing enhancer experimental_29670 [Gene]
  • LOC132090848:Neanderthal introgressed variant-containing enhancer experimental_29671 [Gene]
  • LOC132090123:Neanderthal introgressed variant-containing enhancer experimental_29672 [Gene]
  • LOC132090124:Neanderthal introgressed variant-containing enhancer experimental_29674 [Gene]
  • LOC132090125:Neanderthal introgressed variant-containing enhancer experimental_29675 [Gene]
  • LOC132090126:Neanderthal introgressed variant-containing enhancer experimental_29678 [Gene]
  • LOC132090127:Neanderthal introgressed variant-containing enhancer experimental_29680 [Gene]
  • LOC132090849:Neanderthal introgressed variant-containing enhancer experimental_29684 [Gene]
  • LOC132090128:Neanderthal introgressed variant-containing enhancer experimental_29688 [Gene]
  • RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBMS2:RNA binding motif single stranded interacting protein 2 [Gene - OMIM - HGNC]
  • SPRYD4:SPRY domain containing 4 [Gene - HGNC]
  • SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
  • LOC124629373:Sharpr-MPRA regulatory region 15563 [Gene]
  • LOC124629372:Sharpr-MPRA regulatory region 2650 [Gene]
  • LOC124629376:Sharpr-MPRA regulatory region 4868 [Gene]
  • LOC121832836:Sharpr-MPRA regulatory region 8924 [Gene]
  • LOC112163613:Sharpr-MPRA regulatory region 9353 [Gene]
  • LOC124629375:Sharpr-MPRA regulatory region 96 [Gene]
  • ANKRD52:ankyrin repeat domain 52 [Gene - HGNC]
  • APOF:apolipoprotein F [Gene - OMIM - HGNC]
  • BAZ2A:bromodomain adjacent to zinc finger domain 2A [Gene - OMIM - HGNC]
  • CNPY2:canopy FGF signaling regulator 2 [Gene - OMIM - HGNC]
  • CS:citrate synthase [Gene - OMIM - HGNC]
  • COQ10A:coenzyme Q10A [Gene - HGNC]
  • ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • ESYT1:extended synaptotagmin 1 [Gene - OMIM - HGNC]
  • GLS2:glutaminase 2 [Gene - OMIM - HGNC]
  • HSD17B6:hydroxysteroid 17-beta dehydrogenase 6 [Gene - OMIM - HGNC]
  • IL23A:interleukin 23 subunit alpha [Gene - OMIM - HGNC]
  • MIP:major intrinsic protein of lens fiber [Gene - OMIM - HGNC]
  • MYL6:myosin light chain 6 [Gene - OMIM - HGNC]
  • MYL6B:myosin light chain 6B [Gene - OMIM - HGNC]
  • NACA:nascent polypeptide associated complex subunit alpha [Gene - OMIM - HGNC]
  • NABP2:nucleic acid binding protein 2 [Gene - OMIM - HGNC]
  • PAN2:poly(A) specific ribonuclease subunit PAN2 [Gene - OMIM - HGNC]
  • PA2G4:proliferation-associated 2G4 [Gene - OMIM - HGNC]
  • PTGES3:prostaglandin E synthase 3 [Gene - OMIM - HGNC]
  • RPL41:ribosomal protein L41 [Gene - OMIM - HGNC]
  • RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
  • RNF41:ring finger protein 41 [Gene - OMIM - HGNC]
  • STAT2:signal transducer and activator of transcription 2 [Gene - OMIM - HGNC]
  • SNORD59A:small nucleolar RNA, C/D box 59A [Gene - HGNC]
  • SNORD59B:small nucleolar RNA, C/D box 59B [Gene - HGNC]
  • SNORA105C:small nucleolar RNA, H/ACA box 105C [Gene - HGNC]
  • SLC39A5:solute carrier family 39 member 5 [Gene - OMIM - HGNC]
  • SUOX:sulfite oxidase [Gene - OMIM - HGNC]
  • TRS-CGA4-1:tRNA-Ser (anticodon CGA) 4-1 [Gene - HGNC]
  • TIMELESS:timeless circadian regulator [Gene - OMIM - HGNC]
  • LOC105369781:uncharacterized LOC105369781 [Gene]
  • ZC3H10:zinc finger CCCH-type containing 10 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.2-13.3
Genomic location:
Chr12: 55986511 - 56885590 (on Assembly GRCh38)

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576333Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Uncertain significance
(May 25, 2021) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV002576333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023