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GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1 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:
RCV000207091.1

Allele description [Variation Report for GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1]

GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1

Genes:
  • ARFGAP1:ADP ribosylation factor GTPase activating protein 1 [Gene - OMIM - HGNC]
  • LOC130066355:ATAC-STARR-seq lymphoblastoid silent region 13150 [Gene]
  • LOC130066356:ATAC-STARR-seq lymphoblastoid silent region 13151 [Gene]
  • LOC126863086:BRD4-independent group 4 enhancer GRCh37_chr20:61971654-61972853 [Gene]
  • LOC132090594:Neanderthal introgressed variant-containing enhancer experimental_60863 [Gene]
  • LOC126863087:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61986832-61988031 [Gene]
  • LOC125387319:Sharpr-MPRA regulatory region 327 [Gene]
  • LOC125387318:Sharpr-MPRA regulatory region 785 [Gene]
  • LOC121627914:Sharpr-MPRA regulatory region 8221 [Gene]
  • BIRC7:baculoviral IAP repeat containing 7 [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • COL20A1:collagen type XX alpha 1 chain [Gene - OMIM - HGNC]
  • MIR4326:microRNA 4326 [Gene - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • NKAIN4:sodium/potassium transporting ATPase interacting 4 [Gene - OMIM - HGNC]
  • LOC100130587:uncharacterized LOC100130587 [Gene]
  • FLJ16779:uncharacterized LOC100192386 [Gene]
Variant type:
copy number loss
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
HGVS:
NC_000020.11:g.63239482_63415015del

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
SCV000258899Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
no assertion criteria provided
Uncertain significance
(Jul 20, 2015) 		somaticresearch

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., SCV000258899.1

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

Last Updated: Feb 14, 2024