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GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2016
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:
RCV000234919.1

Allele description [Variation Report for GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3]

GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3

Genes:
NTNG1:netrin G1 [Gene - OMIM - HGNC]
PRMT6:protein arginine methyltransferase 6 [Gene - OMIM - HGNC]
VAV3:vav guanine nucleotide exchange factor 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p13.3
Genomic location:
Chr1: 107538505 - 108235719 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3
HGVS:
    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
    SCV000292062Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Uncertain significance
    (Jan 22, 2016)     		unknownclinical testing

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

    Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Citations

    PubMed

    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

    O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

    Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

    PubMed [citation]
    PMID:
    21572417
    PMCID:
    PMC3115696

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000292062.1

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

    Last Updated: Apr 23, 2022