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GRCh37/hg19 1q22(chr1:155902621-156207096)x3 AND not specified

Germline classification:
Uncertain significance (1 submission)
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:
RCV003986329.1

Allele description [Variation Report for GRCh37/hg19 1q22(chr1:155902621-156207096)x3]

GRCh37/hg19 1q22(chr1:155902621-156207096)x3

Genes:
  • KHDC4:KH domain containing 4, pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • PMF1-BGLAP:PMF1-BGLAP readthrough [Gene - HGNC]
  • RAB25:RAB25, member RAS oncogene family [Gene - OMIM - HGNC]
  • ARHGEF2:Rho/Rac guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • LMNA:lamin A/C [Gene - OMIM - HGNC]
  • LAMTOR2:late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [Gene - OMIM - HGNC]
  • MEX3A:mex-3 RNA binding family member A [Gene - OMIM - HGNC]
  • PMF1:polyamine modulated factor 1 [Gene - OMIM - HGNC]
  • RXFP4:relaxin family peptide/INSL5 receptor 4 [Gene - OMIM - HGNC]
  • SEMA4A:semaphorin 4A [Gene - OMIM - HGNC]
  • SSR2:signal sequence receptor subunit 2 [Gene - OMIM - HGNC]
  • SLC25A44:solute carrier family 25 member 44 [Gene - OMIM - HGNC]
  • UBQLN4:ubiquilin 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q22
Genomic location:
Chr1: 155902621 - 156207096 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q22(chr1:155902621-156207096)x3
HGVS:
    Observations:
    1

    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
    SCV004802458ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Uncertain significancegermlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802458.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 30, 2024