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GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067) AND Familial clubfoot due to 17q23.1q23.2 microduplication

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002280709.1

Allele description [Variation Report for GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)]

GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)

Genes:
  • BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
  • BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
  • CHCT1:CHD1 helical C-terminal domain containing 1 [Gene - HGNC]
  • HEATR6:HEAT repeat containing 6 [Gene - HGNC]
  • TBX2:T-box transcription factor 2 [Gene - OMIM - HGNC]
  • TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
  • APPBP2:amyloid beta precursor protein binding protein 2 [Gene - OMIM - HGNC]
  • CA4:carbonic anhydrase 4 [Gene - OMIM - HGNC]
  • INTS2:integrator complex subunit 2 [Gene - OMIM - HGNC]
  • LINC02875:long intergenic non-protein coding RNA 2875 [Gene - HGNC]
  • MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
  • NACA2:nascent polypeptide associated complex subunit alpha 2 [Gene - OMIM - HGNC]
  • PPM1D:protein phosphatase, Mg2+/Mn2+ dependent 1D [Gene - OMIM - HGNC]
  • USP32:ubiquitin specific peptidase 32 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q23.1-23.2
Genomic location:
Chr17: 58111094 - 60323067 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)

Condition(s)

Name:
Familial clubfoot due to 17q23.1q23.2 microduplication
Synonyms:
Chromosome 17q23.1-q23.2 duplication syndrome
Identifiers:
MONDO: MONDO:0013329; MedGen: C3150880; Orphanet: 199315; Orphanet: 238578; OMIM: 613618

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568974Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568974.1

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

Last Updated: Sep 3, 2022