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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:
RCV000207104.1

Allele description [Variation Report for Single allele]

Genes:
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
Variant type:
Complex
Cytogenetic location:
11p15.5
Genomic location:
Chr11: 870446 - 1857751 (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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258693Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
no assertion criteria provided
Uncertain significance
(Jul 20, 2015)
somaticresearch

Description

Loss of heterozygosity

SCV000258693

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., SCV000258693.1

#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