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GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 AND 6q21-6q22.1 deletion

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000416567.1

Allele description [Variation Report for GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1]

GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1

Genes:
  • NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
  • FYN:FYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GPRC6A:G protein-coupled receptor class C group 6 member A [Gene - OMIM - HGNC]
  • NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [Gene - OMIM - HGNC]
  • ROS1:ROS proto-oncogene 1, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • RWDD1:RWD domain containing 1 [Gene - HGNC]
  • TSPYL1:TSPY like 1 [Gene - OMIM - HGNC]
  • TSPYL4:TSPY like 4 [Gene - OMIM - HGNC]
  • ASF1A:anti-silencing function 1A histone chaperone [Gene - OMIM - HGNC]
  • CALHM4:calcium homeostasis modulator family member 4 [Gene - HGNC]
  • CALHM5:calcium homeostasis modulator family member 5 [Gene - HGNC]
  • CALHM6:calcium homeostasis modulator family member 6 [Gene - OMIM - HGNC]
  • CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
  • CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
  • COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]
  • DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
  • DCBLD1:discoidin, CUB and LCCL domain containing 1 [Gene - HGNC]
  • FAM162B:family with sequence similarity 162 member B [Gene - HGNC]
  • FAM184A:family with sequence similarity 184 member A [Gene - HGNC]
  • FAM229B:family with sequence similarity 229 member B [Gene - HGNC]
  • FRK:fyn related Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GOPC:golgi associated PDZ and coiled-coil motif containing [Gene - OMIM - HGNC]
  • HS3ST5:heparan sulfate-glucosamine 3-sulfotransferase 5 [Gene - OMIM - HGNC]
  • HDAC2:histone deacetylase 2 [Gene - OMIM - HGNC]
  • KPNA5:karyopherin subunit alpha 5 [Gene - OMIM - HGNC]
  • LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
  • MAN1A1:mannosidase alpha class 1A member 1 [Gene - OMIM - HGNC]
  • MCM9:minichromosome maintenance 9 homologous recombination repair factor [Gene - OMIM - HGNC]
  • MARCKS:myristoylated alanine rich protein kinase C substrate [Gene - OMIM - HGNC]
  • PLN:phospholamban [Gene - OMIM - HGNC]
  • RSPH4A:radial spoke head component 4A [Gene - OMIM - HGNC]
  • RFX6:regulatory factor X6 [Gene - OMIM - HGNC]
  • RFPL4B:ret finger protein like 4B [Gene - HGNC]
  • SLC35F1:solute carrier family 35 member F1 [Gene - OMIM - HGNC]
  • TRAPPC3L:trafficking protein particle complex subunit 3L [Gene - OMIM - HGNC]
  • TUBE1:tubulin epsilon 1 [Gene - OMIM - HGNC]
  • VGLL2:vestigial like family member 2 [Gene - OMIM - HGNC]
  • ZUP1:zinc finger containing ubiquitin peptidase 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q21-22.31
Genomic location:
Chr6: 112069445 - 120994664 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1
HGVS:

    Condition(s)

    Name:
    6q21-6q22.1 deletion
    Identifiers:
    MedGen: CN233148

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000249594Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
    criteria provided, single submitter

    (Ciaccio et al. (Eur J Med Genet. 2016))    		Likely pathogenic
    (Sep 1, 2015)     		de novoclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

    Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D.

    Eur J Med Genet. 2017 Mar;60(3):159-162. doi: 10.1016/j.ejmg.2016.12.006. Epub 2016 Dec 20.

    PubMed [citation]
    PMID:
    28007608

    Details of each submission

    From Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, SCV000249594.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 14, 2023