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GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4 AND Neuropathy, hereditary sensory, type 1D

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:
RCV004767757.1

Allele description [Variation Report for GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4]

GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4

Genes:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
MAP4K5:mitogen-activated protein kinase kinase kinase kinase 5 [Gene - OMIM - HGNC]
SAV1:salvador family WW domain containing protein 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q22.1
Genomic location:
Chr14: 50911699 - 51132124 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4
HGVS:

    Condition(s)

    Name:
    Neuropathy, hereditary sensory, type 1D
    Identifiers:
    MONDO: MONDO:0013381; MedGen: C3150972; Orphanet: 36386; OMIM: 613708

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV005200736Solve-RD Consortium
    no assertion criteria provided
    		Likely pathogenic
    (Jun 1, 2024)     		germlineprovider interpretation

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

    Details of each submission

    From Solve-RD Consortium, SCV005200736.1

    #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
    1germlineyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 26, 2024