GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3 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:: RCV000207288.1

Allele description [Variation Report for GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3]

GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3

Genes:

AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]
GTPBP10:GTP binding protein 10 [Gene - OMIM - HGNC]
STEAP1:STEAP family member 1 [Gene - OMIM - HGNC]
STEAP2:STEAP2 metalloreductase [Gene - OMIM - HGNC]
STEAP4:STEAP4 metalloreductase [Gene - OMIM - HGNC]
CFAP69:cilia and flagella associated protein 69 [Gene - OMIM - HGNC]
CLDN12:claudin 12 [Gene - OMIM - HGNC]
CDK14:cyclin dependent kinase 14 [Gene - OMIM - HGNC]
FZD1:frizzled class receptor 1 [Gene - OMIM - HGNC]
MTERF1:mitochondrial transcription termination factor 1 [Gene - OMIM - HGNC]
SRI:sorcin [Gene - OMIM - HGNC]
TEX47:testis expressed 47 [Gene - HGNC]
ZNF804B:zinc finger protein 804B [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7q21.12-21.2

Genomic location:

Chr7: 87840219 - 91707100 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3

HGVS:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258812	Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.	no assertion criteria provided	Uncertain significance (Jul 20, 2015)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258812

Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.

no assertion criteria provided

Uncertain significance
(Jul 20, 2015)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	no	research

Details of each submission

From Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc., SCV000258812.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	no	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	left axillary node	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3 AND Breast ductal adenocarcinoma

Allele description [Variation Report for GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3]

GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc., SCV000258812.1