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GRCh37/hg19 9p23(chr9:14088188-14102587)x1 AND Macrocephaly, acquired, with impaired intellectual development

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004767747.1

Allele description [Variation Report for GRCh37/hg19 9p23(chr9:14088188-14102587)x1]

GRCh37/hg19 9p23(chr9:14088188-14102587)x1

Gene:
NFIB:nuclear factor I B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9p23
Genomic location:
Chr9: 14088188 - 14102587 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p23(chr9:14088188-14102587)x1
HGVS:

    Condition(s)

    Name:
    Macrocephaly, acquired, with impaired intellectual development
    Synonyms:
    MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION
    Identifiers:
    MONDO: MONDO:0032658; MedGen: C4748993; OMIM: 618286

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV005200726Solve-RD Consortium
    no assertion criteria provided
    		Likely pathogenic
    (Jun 1, 2024)     		de novoprovider interpretation

    Help

    Summary from all submissions

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

    Details of each submission

    From Solve-RD Consortium, SCV005200726.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedprovider interpretationnot provided

    Description

    This CNV was confirmed by the submitting clinician to impact a gene that corresponds with the phenotype of the affected individual, and thus deemed to be causative for their condition.

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

    Last Updated: Oct 26, 2024