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NC_000001.11:g.25320307_25719620dup AND 9q34 microduplication syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 26, 2019
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:
RCV000851533.2

Allele description [Variation Report for NC_000001.11:g.25320307_25719620dup]

NC_000001.11:g.25320307_25719620dup

Genes:
  • SYF2:SYF2 pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • LOC129929770:ATAC-STARR-seq lymphoblastoid active region 457 [Gene]
  • LOC129929771:ATAC-STARR-seq lymphoblastoid active region 458 [Gene]
  • LOC129929772:ATAC-STARR-seq lymphoblastoid active region 459 [Gene]
  • LOC129929775:ATAC-STARR-seq lymphoblastoid active region 460 [Gene]
  • LOC129929778:ATAC-STARR-seq lymphoblastoid active region 461 [Gene]
  • LOC129929779:ATAC-STARR-seq lymphoblastoid active region 462 [Gene]
  • LOC129929781:ATAC-STARR-seq lymphoblastoid active region 463 [Gene]
  • LOC129929767:ATAC-STARR-seq lymphoblastoid silent region 453 [Gene]
  • LOC129929768:ATAC-STARR-seq lymphoblastoid silent region 454 [Gene]
  • LOC129929769:ATAC-STARR-seq lymphoblastoid silent region 455 [Gene]
  • LOC129929773:ATAC-STARR-seq lymphoblastoid silent region 456 [Gene]
  • LOC129929774:ATAC-STARR-seq lymphoblastoid silent region 457 [Gene]
  • LOC129929776:ATAC-STARR-seq lymphoblastoid silent region 458 [Gene]
  • LOC129929777:ATAC-STARR-seq lymphoblastoid silent region 459 [Gene]
  • LOC129929780:ATAC-STARR-seq lymphoblastoid silent region 460 [Gene]
  • LOC129388471:MPRA-validated peak126 silencer [Gene]
  • LOC129388472:MPRA-validated peak127 silencer [Gene]
  • LOC129388473:MPRA-validated peak128 silencer [Gene]
  • LOC129388474:MPRA-validated peak129 silencer [Gene]
  • LOC129388475:MPRA-validated peak130 silencer [Gene]
  • RHCE:Rh blood group CcEe antigens [Gene - OMIM - HGNC]
  • RHD:Rh blood group D antigen [Gene - OMIM - HGNC]
  • LOC122056800:Sharpr-MPRA regulatory region 1026 [Gene]
  • LOC122056799:Sharpr-MPRA regulatory region 3419 [Gene]
  • LOC122056798:Sharpr-MPRA regulatory region 4019 [Gene]
  • RSRP1:arginine and serine rich protein 1 [Gene - OMIM - HGNC]
  • LOC133206434:downstream Rhesus box [Gene]
  • LDLRAP1:low density lipoprotein receptor adaptor protein 1 [Gene - OMIM - HGNC]
  • MACO1:macoilin 1 [Gene - OMIM - HGNC]
  • MAN1C1:mannosidase alpha class 1C member 1 [Gene - OMIM - HGNC]
  • TMEM50A:transmembrane protein 50A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.11
Genomic location:
Chr1: 25320307 - 25719620 (on Assembly GRCh38)
Preferred name:
NC_000001.11:g.25320307_25719620dup
HGVS:
NC_000001.11:g.25320307_25719620dup

Condition(s)

Name:
9q34 microduplication syndrome
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893133Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Likely benign
(Mar 26, 2019) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes2not providednot providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, SCV000893133.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 1, 2024