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GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2014
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:
RCV000190520.1

Allele description [Variation Report for GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)]

GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)

Genes:
  • ABCD4:ATP binding cassette subfamily D member 4 [Gene - OMIM - HGNC]
  • CIPC:CLOCK interacting pacemaker [Gene - OMIM - HGNC]
  • DCAF4:DDB1 and CUL4 associated factor 4 [Gene - OMIM - HGNC]
  • FAM161B:FAM161 centrosomal protein B [Gene - HGNC]
  • FCF1:FCF1 rRNA-processing protein [Gene - HGNC]
  • FLVCR2:FLVCR heme transporter 2 [Gene - OMIM - HGNC]
  • FOS:Fos proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GPATCH2L:G-patch domain containing 2 like [Gene - HGNC]
  • HEATR4:HEAT repeat containing 4 [Gene - HGNC]
  • JDP2:Jun dimerization protein 2 [Gene - OMIM - HGNC]
  • NEK9:NIMA related kinase 9 [Gene - OMIM - HGNC]
  • NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
  • NUMB:NUMB endocytic adaptor protein [Gene - OMIM - HGNC]
  • PNMA1:PNMA family member 1 [Gene - OMIM - HGNC]
  • RBM25:RNA binding motif protein 25 [Gene - OMIM - HGNC]
  • YLPM1:YLP motif containing 1 [Gene - OMIM - HGNC]
  • ACOT1:acyl-CoA thioesterase 1 [Gene - OMIM - HGNC]
  • ACOT2:acyl-CoA thioesterase 2 [Gene - OMIM - HGNC]
  • ACOT4:acyl-CoA thioesterase 4 [Gene - OMIM - HGNC]
  • ACOT6:acyl-CoA thioesterase 6 [Gene - OMIM - HGNC]
  • ACYP1:acylphosphatase 1 [Gene - OMIM - HGNC]
  • ALDH6A1:aldehyde dehydrogenase 6 family member A1 [Gene - OMIM - HGNC]
  • ANGEL1:angel homolog 1 [Gene - OMIM - HGNC]
  • AREL1:apoptosis resistant E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • BBOF1:basal body orientation factor 1 [Gene - HGNC]
  • BATF:basic leucine zipper ATF-like transcription factor [Gene - OMIM - HGNC]
  • COQ6:coenzyme Q6, monooxygenase [Gene - OMIM - HGNC]
  • DLST:dihydrolipoamide S-succinyltransferase [Gene - OMIM - HGNC]
  • DPF3:double PHD fingers 3 [Gene - OMIM - HGNC]
  • DNAL1:dynein axonemal light chain 1 [Gene - OMIM - HGNC]
  • ENTPD5:ectonucleoside triphosphate diphosphohydrolase 5 (inactive) [Gene - OMIM - HGNC]
  • ERG28:ergosterol biosynthesis 28 homolog [Gene - OMIM - HGNC]
  • ESRRB:estrogen related receptor beta [Gene - OMIM - HGNC]
  • EIF2B2:eukaryotic translation initiation factor 2B subunit beta [Gene - OMIM - HGNC]
  • IRF2BPL:interferon regulatory factor 2 binding protein like [Gene - OMIM - HGNC]
  • IFT43:intraflagellar transport 43 [Gene - OMIM - HGNC]
  • ISCA2:iron-sulfur cluster assembly 2 [Gene - OMIM - HGNC]
  • LTBP2:latent transforming growth factor beta binding protein 2 [Gene - OMIM - HGNC]
  • LRRC74A:leucine rich repeat containing 74A [Gene - HGNC]
  • LIN52:lin-52 DREAM MuvB core complex component [Gene - HGNC]
  • MIDEAS:mitotic deacetylase associated SANT domain protein [Gene - HGNC]
  • MLH3:mutL homolog 3 [Gene - OMIM - HGNC]
  • PAPLN:papilin, proteoglycan like sulfated glycoprotein [Gene - OMIM - HGNC]
  • PGF:placental growth factor [Gene - OMIM - HGNC]
  • PSEN1:presenilin 1 [Gene - OMIM - HGNC]
  • PROX2:prospero homeobox 2 [Gene - OMIM - HGNC]
  • PTGR2:prostaglandin reductase 2 [Gene - OMIM - HGNC]
  • RIOX1:ribosomal oxygenase 1 [Gene - OMIM - HGNC]
  • RPS6KL1:ribosomal protein S6 kinase like 1 [Gene - HGNC]
  • SYNDIG1L:synapse differentiation inducing 1 like [Gene - OMIM - HGNC]
  • TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
  • TMED10:transmembrane p24 trafficking protein 10 [Gene - OMIM - HGNC]
  • TMEM63C:transmembrane protein 63C [Gene - OMIM - HGNC]
  • TTLL5:tubulin tyrosine ligase like 5 [Gene - OMIM - HGNC]
  • VASH1:vasohibin 1 [Gene - OMIM - HGNC]
  • VRTN:vertebrae development associated [Gene - HGNC]
  • VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]
  • ZC2HC1C:zinc finger C2HC-type containing 1C [Gene - HGNC]
  • ZDHHC22:zinc finger DHHC-type palmitoyltransferase 22 [Gene - HGNC]
  • ZFYVE1:zinc finger FYVE-type containing 1 [Gene - OMIM - HGNC]
  • ZNF410:zinc finger protein 410 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q24.2-24.3
Genomic location:
Chr14: 73152115 - 77698582 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
Observations:
1

Condition(s)

Name:
Intellectual disability, mild
Identifiers:
MedGen: C0026106; Human Phenotype Ontology: HP:0001256
Name:
Multiple skeletal anomalies
Identifiers:
MedGen: C4025138; Human Phenotype Ontology: HP:0005775
Name:
Aplasia/Hypoplasia of the thumb
Identifiers:
MedGen: C3179508; Human Phenotype Ontology: HP:0009601
Name:
Ventricular septal defect
Identifiers:
MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000245406Center for Molecular Medicine, University Medical Center Utrecht
no assertion criteria provided
Likely pathogenic
(Oct 1, 2014)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Details of each submission

From Center for Molecular Medicine, University Medical Center Utrecht, SCV000245406.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Feb 13, 2023