U.S. flag

An official website of the United States government

GRCh37/hg19 3p21.31(chr3:48501854-48541490)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:
RCV000207132.1

Allele description [Variation Report for GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3]

GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3

Genes:
ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
SHISA5:shisa family member 5 [Gene - OMIM - HGNC]
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p21.31
Genomic location:
Chr3: 48501854 - 48541490 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3
HGVS:

    Condition(s)

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000258782Next 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., SCV000258782.1

    #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