Single allele AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 2020
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:
RCV001095544.1

Allele description [Variation Report for Single allele]

Genes:
  • BARX1:BARX homeobox 1 [Gene - OMIM - HGNC]
  • NUTM2F:NUT family member 2F [Gene - HGNC]
  • PHF2:PHD finger protein 2 [Gene - OMIM - HGNC]
  • FAM120AOS:family with sequence similarity 120A opposite strand [Gene - HGNC]
  • FAM120A:family with sequence similarity 120A [Gene - OMIM - HGNC]
  • FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
  • FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
  • MFSD14B:major facilitator superfamily domain containing 14B [Gene - HGNC]
  • MIRLET7A1:microRNA let-7a-1 [Gene - OMIM - HGNC]
  • MIRLET7D:microRNA let-7d [Gene - OMIM - HGNC]
  • MIRLET7F1:microRNA let-7f-1 [Gene - OMIM - HGNC]
  • PTPDC1:protein tyrosine phosphatase domain containing 1 [Gene - HGNC]
  • ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q22.31-22.32
Genomic location:
Chr9: 96160235 - 97428496 (on Assembly GRCh37)
Other names:
arr[hg19] 9q2(96,226,955-97,320,408)x3
HGVS:
    Functional consequence:
    probably has functional consequence
    Observations:
    2

    Condition(s)

    Name:
    Hiatus hernia
    Synonyms:
    Hiatal hernia
    Identifiers:
    MONDO: MONDO:0007721; MedGen: C3489393; OMIM: 142400; Human Phenotype Ontology: HP:0002036
    Name:
    Expressive language delay
    Identifiers:
    MedGen: C0454641; Human Phenotype Ontology: HP:0002474
    Name:
    Microcephaly
    Synonyms:
    Microcephaly (disease)
    Identifiers:
    MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
    Name:
    Delayed gross motor development
    Identifiers:
    MedGen: C1837658; Human Phenotype Ontology: HP:0002194
    Name:
    Mild short stature
    Identifiers:
    MedGen: C3150077; Human Phenotype Ontology: HP:0003502
    Name:
    Delayed fine motor development
    Identifiers:
    MedGen: C4023681; Human Phenotype Ontology: HP:0010862

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001245472Genetics and Genomics, Alberta Children's Hospital
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Likely pathogenic
    (May 4, 2020)     		maternalclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    East Indianmaternalyes72not providednot providednot providedclinical testing

    Details of each submission

    From Genetics and Genomics, Alberta Children's Hospital, SCV001245472.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1East Indian7not providednot providedclinical testingnot provided

    Description

    Penetrance of hiatial hernia is not complete as 4 of 7 carries demonstrated this phenotype. All had mild developmental dealy

    Description

    This duplication was classified as likely pathogenic due to segregation studies and its absence from controls.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1maternalyesnot providednot providednot provided7not provided2not provided

    Last Updated: Apr 23, 2022