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Single allele AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2021
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:
RCV001374461.1

Allele description [Variation Report for Single allele]

Genes:
  • ARL6IP5:ADP ribosylation factor like GTPase 6 interacting protein 5 [Gene - OMIM - HGNC]
  • EOGT:EGF domain specific O-linked N-acetylglucosamine transferase [Gene - OMIM - HGNC]
  • FRMD4B:FERM domain containing 4B [Gene - OMIM - HGNC]
  • FOXP1-IT1:FOXP1 intronic transcript 1 [Gene - HGNC]
  • GPR27:G protein-coupled receptor 27 [Gene - OMIM - HGNC]
  • RYBP:RING1 and YY1 binding protein [Gene - OMIM - HGNC]
  • TAFA4:TAFA chemokine like family member 4 [Gene - OMIM - HGNC]
  • TMF1:TATA element modulatory factor 1 [Gene - OMIM - HGNC]
  • EIF4E3:eukaryotic translation initiation factor 4E family member 3 [Gene - OMIM - HGNC]
  • FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
  • LMOD3:leiomodin 3 [Gene - OMIM - HGNC]
  • MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
  • PROK2:prokineticin 2 [Gene - OMIM - HGNC]
  • UBA3:ubiquitin like modifier activating enzyme 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p14.1-13
Genomic location:
Chr3: 68939251 - 72700418 (on Assembly GRCh37)
HGVS:
NC_000003.11:g.(68939251_68965654)_(72679568_72700418)del

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571333Daryl Scott Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Apr 16, 2021) 		not-reportedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewish not-reportedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV001571333.1

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

Last Updated: Oct 14, 2023