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GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3 AND Isolated anorectal malformation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2022
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:
RCV002286611.1

Allele description [Variation Report for GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3]

GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3

Genes:
  • RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
  • B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
  • WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
  • FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
  • FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
  • FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
  • METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
  • ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q25.3
Genomic location:
Chr17: 80496771 - 81195210 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3
HGVS:

    Condition(s)

    Name:
    Isolated anorectal malformation
    Identifiers:
    MedGen: C5680419

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002576540Department of Pediatric and Adolescent Medicine, University of Erlangen
    no assertion criteria provided
    		Likely pathogenic
    (Aug 1, 2022)     		de novocase-control

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedcase-control

    Details of each submission

    From Department of Pediatric and Adolescent Medicine, University of Erlangen, SCV002576540.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedcase-controlnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jan 26, 2024