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GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 2018
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:
RCV001005856.1

Allele description [Variation Report for GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1]

GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1

Genes:
  • AKAP12:A-kinase anchoring protein 12 [Gene - OMIM - HGNC]
  • FBXO5:F-box protein 5 [Gene - OMIM - HGNC]
  • LRP11:LDL receptor related protein 11 [Gene - HGNC]
  • MYCT1:MYC target 1 [Gene - OMIM - HGNC]
  • SYNE1-AS1:SYNE1 antisense RNA 1 [Gene - HGNC]
  • TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
  • ULBP1:UL16 binding protein 1 [Gene - OMIM - HGNC]
  • ULBP2:UL16 binding protein 2 [Gene - OMIM - HGNC]
  • ULBP3:UL16 binding protein 3 [Gene - OMIM - HGNC]
  • ARMT1:acidic residue methyltransferase 1 [Gene - OMIM - HGNC]
  • CCDC170:coiled-coil domain containing 170 [Gene - HGNC]
  • ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]
  • GINM1:glycosylated integral membrane protein 1 [Gene - HGNC]
  • IYD:iodotyrosine deiodinase [Gene - OMIM - HGNC]
  • KATNA1:katanin catalytic subunit A1 [Gene - OMIM - HGNC]
  • LATS1:large tumor suppressor kinase 1 [Gene - OMIM - HGNC]
  • MTHFD1L:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like [Gene - OMIM - HGNC]
  • MTRF1L:mitochondrial translation release factor 1 like [Gene - OMIM - HGNC]
  • NUP43:nucleoporin 43 [Gene - OMIM - HGNC]
  • PPIL4:peptidylprolyl isomerase like 4 [Gene - OMIM - HGNC]
  • PLEKHG1:pleckstrin homology and RhoGEF domain containing G1 [Gene - OMIM - HGNC]
  • PPP1R14C:protein phosphatase 1 regulatory inhibitor subunit 14C [Gene - OMIM - HGNC]
  • PCMT1:protein-L-isoaspartate (D-aspartate) O-methyltransferase [Gene - OMIM - HGNC]
  • RGS17:regulator of G protein signaling 17 [Gene - OMIM - HGNC]
  • RMND1:required for meiotic nuclear division 1 homolog [Gene - OMIM - HGNC]
  • RAET1E:retinoic acid early transcript 1E [Gene - OMIM - HGNC]
  • RAET1G:retinoic acid early transcript 1G [Gene - OMIM - HGNC]
  • RAET1L:retinoic acid early transcript 1L [Gene - OMIM - HGNC]
  • SUMO4:small ubiquitin like modifier 4 [Gene - OMIM - HGNC]
  • SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]
  • VIP:vasoactive intestinal peptide [Gene - OMIM - HGNC]
  • ZC3H12D:zinc finger CCCH-type containing 12D [Gene - OMIM - HGNC]
  • ZBTB2:zinc finger and BTB domain containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q25.1-25.2
Genomic location:
Chr6: 149431322 - 154120064 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1
HGVS:
NC_000006.11:g.(?_149431322)_(154120064_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001165414Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Aug 7, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001165414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023