U.S. flag

An official website of the United States government

GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)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:
RCV000207292.2

Allele description [Variation Report for GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1]

GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1

Genes:
  • AKTIP:AKT interacting protein [Gene - OMIM - HGNC]
  • LOC130058962:ATAC-STARR-seq lymphoblastoid active region 10798 [Gene]
  • LOC130058964:ATAC-STARR-seq lymphoblastoid active region 10799 [Gene]
  • LOC130058965:ATAC-STARR-seq lymphoblastoid active region 10800 [Gene]
  • LOC130058966:ATAC-STARR-seq lymphoblastoid active region 10801 [Gene]
  • LOC130058968:ATAC-STARR-seq lymphoblastoid active region 10802 [Gene]
  • LOC130058972:ATAC-STARR-seq lymphoblastoid active region 10804 [Gene]
  • LOC130058973:ATAC-STARR-seq lymphoblastoid active region 10805 [Gene]
  • LOC130058974:ATAC-STARR-seq lymphoblastoid active region 10807 [Gene]
  • LOC130058986:ATAC-STARR-seq lymphoblastoid active region 10808 [Gene]
  • LOC130058987:ATAC-STARR-seq lymphoblastoid active region 10809 [Gene]
  • LOC130058988:ATAC-STARR-seq lymphoblastoid active region 10810 [Gene]
  • LOC130058990:ATAC-STARR-seq lymphoblastoid active region 10811 [Gene]
  • LOC130058991:ATAC-STARR-seq lymphoblastoid active region 10812 [Gene]
  • LOC130058992:ATAC-STARR-seq lymphoblastoid active region 10814 [Gene]
  • LOC130058993:ATAC-STARR-seq lymphoblastoid active region 10815 [Gene]
  • LOC130058994:ATAC-STARR-seq lymphoblastoid active region 10816 [Gene]
  • LOC130058997:ATAC-STARR-seq lymphoblastoid active region 10817 [Gene]
  • LOC130059001:ATAC-STARR-seq lymphoblastoid active region 10818 [Gene]
  • LOC130059004:ATAC-STARR-seq lymphoblastoid active region 10819 [Gene]
  • LOC130059005:ATAC-STARR-seq lymphoblastoid active region 10820 [Gene]
  • LOC130059006:ATAC-STARR-seq lymphoblastoid active region 10821 [Gene]
  • LOC130059008:ATAC-STARR-seq lymphoblastoid active region 10822 [Gene]
  • LOC130059009:ATAC-STARR-seq lymphoblastoid active region 10823 [Gene]
  • LOC130059010:ATAC-STARR-seq lymphoblastoid active region 10824 [Gene]
  • LOC130059011:ATAC-STARR-seq lymphoblastoid active region 10825 [Gene]
  • LOC130059013:ATAC-STARR-seq lymphoblastoid active region 10826 [Gene]
  • LOC130059014:ATAC-STARR-seq lymphoblastoid active region 10827 [Gene]
  • LOC130059016:ATAC-STARR-seq lymphoblastoid active region 10828 [Gene]
  • LOC130059018:ATAC-STARR-seq lymphoblastoid active region 10831 [Gene]
  • LOC130059019:ATAC-STARR-seq lymphoblastoid active region 10832 [Gene]
  • LOC130059020:ATAC-STARR-seq lymphoblastoid active region 10833 [Gene]
  • LOC130059021:ATAC-STARR-seq lymphoblastoid active region 10834 [Gene]
  • LOC130059022:ATAC-STARR-seq lymphoblastoid active region 10835 [Gene]
  • LOC130059023:ATAC-STARR-seq lymphoblastoid active region 10836 [Gene]
  • LOC130059024:ATAC-STARR-seq lymphoblastoid active region 10840 [Gene]
  • LOC130059025:ATAC-STARR-seq lymphoblastoid active region 10841 [Gene]
  • LOC130059029:ATAC-STARR-seq lymphoblastoid active region 10842 [Gene]
  • LOC130059030:ATAC-STARR-seq lymphoblastoid active region 10843 [Gene]
  • LOC130059032:ATAC-STARR-seq lymphoblastoid active region 10844 [Gene]
  • LOC130059033:ATAC-STARR-seq lymphoblastoid active region 10845 [Gene]
  • LOC130059034:ATAC-STARR-seq lymphoblastoid active region 10846 [Gene]
  • LOC130058963:ATAC-STARR-seq lymphoblastoid silent region 7457 [Gene]
  • LOC130058967:ATAC-STARR-seq lymphoblastoid silent region 7458 [Gene]
  • LOC130058969:ATAC-STARR-seq lymphoblastoid silent region 7459 [Gene]
  • LOC130058970:ATAC-STARR-seq lymphoblastoid silent region 7460 [Gene]
  • LOC130058971:ATAC-STARR-seq lymphoblastoid silent region 7461 [Gene]
  • LOC130058975:ATAC-STARR-seq lymphoblastoid silent region 7462 [Gene]
  • LOC130058976:ATAC-STARR-seq lymphoblastoid silent region 7463 [Gene]
  • LOC130058977:ATAC-STARR-seq lymphoblastoid silent region 7464 [Gene]
  • LOC130058978:ATAC-STARR-seq lymphoblastoid silent region 7465 [Gene]
  • LOC130058979:ATAC-STARR-seq lymphoblastoid silent region 7468 [Gene]
  • LOC130058980:ATAC-STARR-seq lymphoblastoid silent region 7469 [Gene]
  • LOC130058981:ATAC-STARR-seq lymphoblastoid silent region 7470 [Gene]
  • LOC130058982:ATAC-STARR-seq lymphoblastoid silent region 7471 [Gene]
  • LOC130058983:ATAC-STARR-seq lymphoblastoid silent region 7475 [Gene]
  • LOC130058984:ATAC-STARR-seq lymphoblastoid silent region 7476 [Gene]
  • LOC130058985:ATAC-STARR-seq lymphoblastoid silent region 7477 [Gene]
  • LOC130058989:ATAC-STARR-seq lymphoblastoid silent region 7478 [Gene]
  • LOC130058995:ATAC-STARR-seq lymphoblastoid silent region 7481 [Gene]
  • LOC130058996:ATAC-STARR-seq lymphoblastoid silent region 7482 [Gene]
  • LOC130058998:ATAC-STARR-seq lymphoblastoid silent region 7483 [Gene]
  • LOC130058999:ATAC-STARR-seq lymphoblastoid silent region 7484 [Gene]
  • LOC130059000:ATAC-STARR-seq lymphoblastoid silent region 7485 [Gene]
  • LOC130059002:ATAC-STARR-seq lymphoblastoid silent region 7486 [Gene]
  • LOC130059003:ATAC-STARR-seq lymphoblastoid silent region 7487 [Gene]
  • LOC130059007:ATAC-STARR-seq lymphoblastoid silent region 7489 [Gene]
  • LOC130059012:ATAC-STARR-seq lymphoblastoid silent region 7490 [Gene]
  • LOC130059015:ATAC-STARR-seq lymphoblastoid silent region 7491 [Gene]
  • LOC130059017:ATAC-STARR-seq lymphoblastoid silent region 7492 [Gene]
  • LOC130059026:ATAC-STARR-seq lymphoblastoid silent region 7494 [Gene]
  • LOC130059027:ATAC-STARR-seq lymphoblastoid silent region 7495 [Gene]
  • LOC130059028:ATAC-STARR-seq lymphoblastoid silent region 7496 [Gene]
  • LOC130059031:ATAC-STARR-seq lymphoblastoid silent region 7500 [Gene]
  • LOC130059035:ATAC-STARR-seq lymphoblastoid silent region 7502 [Gene]
  • LOC126862349:BRD4-independent group 4 enhancer GRCh37_chr16:52611160-52612359 [Gene]
  • LOC126862340:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:48997204-48998403 [Gene]
  • LOC126862341:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:49681934-49683133 [Gene]
  • LOC126862343:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:50353005-50354204 [Gene]
  • LOC126862344:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:50430839-50432038 [Gene]
  • LOC126862345:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:51426797-51427996 [Gene]
  • LOC126862350:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:52662737-52663936 [Gene]
  • LOC126862351:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:52831610-52832809 [Gene]
  • CHD9NB:CHD9 neighbor [Gene - HGNC]
  • CNEP1R1:CTD nuclear envelope phosphatase 1 regulatory subunit 1 [Gene - OMIM - HGNC]
  • CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
  • CYLD-AS2:CYLD antisense RNA 2 [Gene - HGNC]
  • CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
  • FTO:FTO alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]
  • HEATR3-AS1:HEATR3 antisense RNA 1 [Gene - HGNC]
  • LOC126862342:MED14-independent group 3 enhancer GRCh37_chr16:50347343-50348542 [Gene]
  • LOC126862348:MED14-independent group 3 enhancer GRCh37_chr16:52331523-52332722 [Gene]
  • LOC126862354:MED14-independent group 3 enhancer GRCh37_chr16:53411888-53413087 [Gene]
  • LOC129390788:MPRA-validated peak2581 silencer [Gene]
  • LOC129390789:MPRA-validated peak2585 silencer [Gene]
  • LOC129390790:MPRA-validated peak2586 silencer [Gene]
  • LOC129390791:MPRA-validated peak2587 silencer [Gene]
  • LOC129390792:MPRA-validated peak2588 silencer [Gene]
  • LOC129390793:MPRA-validated peak2589 silencer [Gene]
  • LOC129390794:MPRA-validated peak2593 silencer [Gene]
  • LOC129390795:MPRA-validated peak2596 silencer [Gene]
  • N4BP1:NEDD4 binding protein 1 [Gene - OMIM - HGNC]
  • NKD1:NKD inhibitor of WNT signaling pathway 1 [Gene - OMIM - HGNC]
  • LOC132090379:Neanderthal introgressed variant-containing enhancer experimental_43383 [Gene]
  • LOC132090380:Neanderthal introgressed variant-containing enhancer experimental_43384 [Gene]
  • LOC126862346:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:51611051-51612250 [Gene]
  • LOC126862347:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:51654939-51656138 [Gene]
  • LOC126862352:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:52846552-52847751 [Gene]
  • LOC126862353:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:53132870-53134069 [Gene]
  • RBL2:RB transcriptional corepressor like 2 [Gene - OMIM - HGNC]
  • RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
  • LOC121847988:Sharpr-MPRA regulatory region 10980 [Gene]
  • LOC125177307:Sharpr-MPRA regulatory region 11329 [Gene]
  • LOC125177309:Sharpr-MPRA regulatory region 1297 [Gene]
  • LOC113939954:Sharpr-MPRA regulatory region 13482 [Gene]
  • LOC125177308:Sharpr-MPRA regulatory region 14141 [Gene]
  • LOC125177305:Sharpr-MPRA regulatory region 14159 [Gene]
  • LOC113939953:Sharpr-MPRA regulatory region 1482 [Gene]
  • LOC125177304:Sharpr-MPRA regulatory region 15629 [Gene]
  • LOC113939952:Sharpr-MPRA regulatory region 1667 [Gene]
  • LOC121847987:Sharpr-MPRA regulatory region 2137 [Gene]
  • LOC125177312:Sharpr-MPRA regulatory region 3100 [Gene]
  • LOC121587545:Sharpr-MPRA regulatory region 4020 [Gene]
  • LOC112449715:Sharpr-MPRA regulatory region 4070 [Gene]
  • LOC125177306:Sharpr-MPRA regulatory region 8986 [Gene]
  • LOC125177311:Sharpr-MPRA regulatory region 9242 [Gene]
  • LOC125177302:Sharpr-MPRA regulatory region 9701 [Gene]
  • TOX3:TOX high mobility group box family member 3 [Gene - OMIM - HGNC]
  • LOC110120823:VISTA enhancer hs101 [Gene]
  • LOC110120826:VISTA enhancer hs124 [Gene]
  • LOC110121339:VISTA enhancer hs1300 [Gene]
  • LOC110120836:VISTA enhancer hs152 [Gene]
  • LOC110120840:VISTA enhancer hs161 [Gene]
  • LOC110120841:VISTA enhancer hs162 [Gene]
  • LOC110120581:VISTA enhancer hs59 [Gene]
  • LOC110120912:VISTA enhancer hs625 [Gene]
  • LOC110120582:VISTA enhancer hs65 [Gene]
  • LOC110120583:VISTA enhancer hs71 [Gene]
  • LOC110120584:VISTA enhancer hs72 [Gene]
  • LOC110120585:VISTA enhancer hs73 [Gene]
  • LOC110120586:VISTA enhancer hs74 [Gene]
  • LOC110120587:VISTA enhancer hs76 [Gene]
  • LOC110120588:VISTA enhancer hs79 [Gene]
  • LOC110120939:VISTA enhancer hs848 [Gene]
  • ADCY7:adenylate cyclase 7 [Gene - OMIM - HGNC]
  • BRD7:bromodomain containing 7 [Gene - OMIM - HGNC]
  • CASC16:cancer susceptibility 16 [Gene - HGNC]
  • CASC22:cancer susceptibility 22 [Gene - HGNC]
  • CBLN1:cerebellin 1 precursor [Gene - OMIM - HGNC]
  • CHD9:chromodomain helicase DNA binding protein 9 [Gene - OMIM - HGNC]
  • C16orf78:chromosome 16 open reading frame 78 [Gene - HGNC]
  • HNRNPA1L3:heterogeneous nuclear ribonucleoprotein A1 like 3 [Gene - HGNC]
  • LINC01571:long intergenic non-protein coding RNA 1571 [Gene - HGNC]
  • LINC02127:long intergenic non-protein coding RNA 2127 [Gene - HGNC]
  • LINC02128:long intergenic non-protein coding RNA 2128 [Gene - HGNC]
  • LINC02168:long intergenic non-protein coding RNA 2168 [Gene - HGNC]
  • LINC02178:long intergenic non-protein coding RNA 2178 [Gene - HGNC]
  • LINC02179:long intergenic non-protein coding RNA 2179 [Gene - HGNC]
  • LINC02180:long intergenic non-protein coding RNA 2180 [Gene - HGNC]
  • LINC02911:long intergenic non-protein coding RNA 2911 [Gene - HGNC]
  • LINC03064:long intergenic non-protein coding RNA 3064 [Gene - HGNC]
  • LINC00919:long intergenic non-protein coding RNA 919 [Gene - HGNC]
  • MIR3181:microRNA 3181 [Gene - HGNC]
  • MIR6771:microRNA 6771 [Gene - HGNC]
  • NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
  • SNX20:sorting nexin 20 [Gene - OMIM - HGNC]
  • SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
  • TENT4B:terminal nucleotidyltransferase 4B [Gene - OMIM - HGNC]
  • LOC101927272:uncharacterized LOC101927272 [Gene]
  • LOC102723373:uncharacterized LOC102723373 [Gene]
  • LOC105371240:uncharacterized LOC105371240 [Gene]
  • ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q12.1-12.2
Genomic location:
Preferred name:
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
HGVS:
NC_000016.10:g.48543083_53879916del

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
SCV000258872Next 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., SCV000258872.1

#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