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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:
RCV002286385.1

Allele description [Variation Report for Single allele]

Genes:
  • LOC130066502:ATAC-STARR-seq lymphoblastoid active region 18322 [Gene]
  • LOC130066503:ATAC-STARR-seq lymphoblastoid active region 18324 [Gene]
  • LOC130066504:ATAC-STARR-seq lymphoblastoid active region 18325 [Gene]
  • LOC130066505:ATAC-STARR-seq lymphoblastoid active region 18326 [Gene]
  • LOC130066506:ATAC-STARR-seq lymphoblastoid active region 18327 [Gene]
  • LOC130066507:ATAC-STARR-seq lymphoblastoid active region 18328 [Gene]
  • LOC130066508:ATAC-STARR-seq lymphoblastoid active region 18329 [Gene]
  • LOC130066509:ATAC-STARR-seq lymphoblastoid active region 18330 [Gene]
  • LOC130066510:ATAC-STARR-seq lymphoblastoid active region 18333 [Gene]
  • LOC130066511:ATAC-STARR-seq lymphoblastoid active region 18335 [Gene]
  • LOC130066512:ATAC-STARR-seq lymphoblastoid active region 18336 [Gene]
  • LOC130066513:ATAC-STARR-seq lymphoblastoid active region 18337 [Gene]
  • LOC130066514:ATAC-STARR-seq lymphoblastoid active region 18338 [Gene]
  • LOC130066515:ATAC-STARR-seq lymphoblastoid active region 18339 [Gene]
  • LOC130066517:ATAC-STARR-seq lymphoblastoid active region 18340 [Gene]
  • LOC130066518:ATAC-STARR-seq lymphoblastoid active region 18341 [Gene]
  • LOC130066516:ATAC-STARR-seq lymphoblastoid silent region 13237 [Gene]
  • LOC126653336:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30447741-30448940 [Gene]
  • MAP3K7CL:MAP3K7 C-terminal like [Gene - OMIM - HGNC]
  • LOC126653335:MED14-independent group 3 enhancer GRCh37_chr21:30206496-30207695 [Gene]
  • LOC129391240:MPRA-validated peak4395 silencer [Gene]
  • N6AMT1:N-6 adenine-specific DNA methyltransferase 1 [Gene - OMIM - HGNC]
  • RWDD2B:RWD domain containing 2B [Gene - OMIM - HGNC]
  • LOC125418056:Sharpr-MPRA regulatory region 14833 [Gene]
  • LOC112694735:Sharpr-MPRA regulatory region 4059 [Gene]
  • LOC125418055:Sharpr-MPRA regulatory region 7516 [Gene]
  • CCT8:chaperonin containing TCP1 subunit 8 [Gene - OMIM - HGNC]
  • LTN1:listerin E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LINC00161:long intergenic non-protein coding RNA 161 [Gene - HGNC]
  • LINC01695:long intergenic non-protein coding RNA 1695 [Gene - HGNC]
  • USP16:ubiquitin specific peptidase 16 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
21q21.3
Genomic location:
Chr21: 28158347 - 29192300 (on Assembly GRCh38)

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576336Lupski 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, SCV002576336.1

#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