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Single allele AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2018
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:
RCV000677941.2

Allele description [Variation Report for Single allele]

Genes:
  • ARFGEF2:ADP ribosylation factor guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • ATP9A:ATPase phospholipid transporting 9A (putative) [Gene - OMIM - HGNC]
  • CEBPB:CCAAT enhancer binding protein beta [Gene - OMIM - HGNC]
  • DDX27:DEAD-box helicase 27 [Gene - OMIM - HGNC]
  • PEDS1-UBE2V1:PEDS1-UBE2V1 readthrough [Gene - HGNC]
  • RIPOR3:RIPOR family member 3 [Gene - HGNC]
  • ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]
  • B4GALT5:beta-1,4-galactosyltransferase 5 [Gene - OMIM - HGNC]
  • BCAS4:breast carcinoma amplified sequence 4 [Gene - OMIM - HGNC]
  • CSE1L:chromosome segregation 1 like [Gene - OMIM - HGNC]
  • DPM1:dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Gene - OMIM - HGNC]
  • MOCS3:molybdenum cofactor synthesis 3 [Gene - OMIM - HGNC]
  • NFATC2:nuclear factor of activated T cells 2 [Gene - OMIM - HGNC]
  • PARD6B:par-6 family cell polarity regulator beta [Gene - OMIM - HGNC]
  • PREX1:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 [Gene - OMIM - HGNC]
  • PEDS1:plasmanylethanolamine desaturase 1 [Gene - OMIM - HGNC]
  • KCNG1:potassium voltage-gated channel modifier subfamily G member 1 [Gene - OMIM - HGNC]
  • KCNB1:potassium voltage-gated channel subfamily B member 1 [Gene - OMIM - HGNC]
  • PTGIS:prostaglandin I2 synthase [Gene - OMIM - HGNC]
  • PTPN1:protein tyrosine phosphatase non-receptor type 1 [Gene - OMIM - HGNC]
  • RNF114:ring finger protein 114 [Gene - OMIM - HGNC]
  • SNAI1:snail family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SLC9A8:solute carrier family 9 member A8 [Gene - OMIM - HGNC]
  • SALL4:spalt like transcription factor 4 [Gene - OMIM - HGNC]
  • SPATA2:spermatogenesis associated 2 [Gene - OMIM - HGNC]
  • STAU1:staufen double-stranded RNA binding protein 1 [Gene - OMIM - HGNC]
  • TRERNA1:translation regulatory long non-coding RNA 1 [Gene - HGNC]
  • UBE2V1:ubiquitin conjugating enzyme E2 V1 [Gene - OMIM - HGNC]
  • ZNFX1:zinc finger NFX1-type containing 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
20q13.13-13.2
Genomic location:
Chr20: 46962638 - 50647699 (on Assembly GRCh37)
HGVS:
NC_000020.10:g.46962638_50647699dup

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804096Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Uncertain significance
(Apr 13, 2018) 		de novoprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedprovider interpretation

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 Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804096.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)

Description

This duplication was identified in a 12 year old male with intellectual disability and history of multiple non-traumatic fractures. While this duplication was de novo, the patient's father has a history of multiple fractures. Of note, this patient has had negative sequencing and deletion/duplication analaysis of the COL1A1 and COL1A2 genes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022