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Single allele AND Breast ductal adenocarcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2015
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:
RCV000207129.1

Allele description [Variation Report for Single allele]

Genes:
  • ADPRM:ADP-ribose/CDP-alcohol diphosphatase, manganese dependent [Gene - HGNC]
  • CDRT15:CMT1A duplicated region transcript 15 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • FBXW10B:F-box and WD repeat domain containing 10B [Gene - OMIM - HGNC]
  • ARHGAP44:Rho GTPase activating protein 44 [Gene - OMIM - HGNC]
  • TBC1D26:TBC1 domain family member 26 [Gene - HGNC]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • ADORA2B:adenosine A2b receptor [Gene - OMIM - HGNC]
  • CENPV:centromere protein V [Gene - OMIM - HGNC]
  • COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
  • DHRS7C:dehydrogenase/reductase 7C [Gene - OMIM - HGNC]
  • DNAH9:dynein axonemal heavy chain 9 [Gene - OMIM - HGNC]
  • ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]
  • GLP2R:glucagon like peptide 2 receptor [Gene - OMIM - HGNC]
  • GAS7:growth arrest specific 7 [Gene - OMIM - HGNC]
  • HS3ST3A1:heparan sulfate-glucosamine 3-sulfotransferase 3A1 [Gene - OMIM - HGNC]
  • HS3ST3B1:heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Gene - OMIM - HGNC]
  • MAP2K4:mitogen-activated protein kinase kinase 4 [Gene - OMIM - HGNC]
  • MYOCD:myocardin [Gene - OMIM - HGNC]
  • MYH13:myosin heavy chain 13 [Gene - OMIM - HGNC]
  • MYH1:myosin heavy chain 1 [Gene - OMIM - HGNC]
  • MYH2:myosin heavy chain 2 [Gene - OMIM - HGNC]
  • MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
  • MYH4:myosin heavy chain 4 [Gene - OMIM - HGNC]
  • MYH8:myosin heavy chain 8 [Gene - OMIM - HGNC]
  • NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • PIGL:phosphatidylinositol glycan anchor biosynthesis class L [Gene - OMIM - HGNC]
  • PIRT:phosphoinositide interacting regulator of transient receptor potential channels [Gene - OMIM - HGNC]
  • RCVRN:recoverin [Gene - OMIM - HGNC]
  • SHISA6:shisa family member 6 [Gene - OMIM - HGNC]
  • SCO1:synthesis of cytochrome C oxidase 1 [Gene - OMIM - HGNC]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
  • TRPV2:transient receptor potential cation channel subfamily V member 2 [Gene - OMIM - HGNC]
  • TMEM220:transmembrane protein 220 [Gene - HGNC]
  • TRIM16:tripartite motif containing 16 [Gene - OMIM - HGNC]
  • UBB:ubiquitin B [Gene - OMIM - HGNC]
  • USP43:ubiquitin specific peptidase 43 [Gene - HGNC]
  • ZSWIM7:zinc finger SWIM-type containing 7 [Gene - OMIM - HGNC]
  • ZNF18:zinc finger protein 18 [Gene - OMIM - HGNC]
  • ZNF286A:zinc finger protein 286A [Gene - HGNC]
Variant type:
Complex
Cytogenetic location:
17p13.1-11.2
Genomic location:
Chr17: 9586165 - 16325968 (on Assembly GRCh37)

Condition(s)

Name:
Breast ductal adenocarcinoma
Synonyms:
Ductal breast carcinoma; Breast cancer, invasive ductal
Identifiers:
MONDO: MONDO:0005590; MedGen: C1527349

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258696Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
no assertion criteria provided
Uncertain significance
(Jul 20, 2015) 		somaticresearch

Description

Loss of heterozygosity

SCV000258696

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednoresearch

Details of each submission

From Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc., SCV000258696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providedleft breastnot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024