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GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 2021
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:
RCV002472610.1

Allele description [Variation Report for GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1]

GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1

Genes:
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • DEFB130A:defensin beta 130A [Gene - HGNC]
  • DEFB134:defensin beta 134 [Gene - HGNC]
  • DEFB135:defensin beta 135 [Gene - HGNC]
  • DEFB136:defensin beta 136 [Gene - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • FAM86B1:family with sequence similarity 86 member B1 [Gene - OMIM - HGNC]
  • FAM86B2:family with sequence similarity 86 member B2 [Gene - OMIM - HGNC]
  • FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
  • USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
  • ZNF705D:zinc finger protein 705D [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p23.1
Genomic location:
Chr8: 8093066 - 12548732 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002772478Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Nov 8, 2021)     		unknownclinical testing

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002772478.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    This deletion involves multiple genes and is associated with the GATA4-related recurrent 8p23.1 deletion syndrome. This syndrome is characterized by developmental impairments, intellectual disability, microcephaly, congenital heart disease, diaphragmatic hernia, hypospadia, and behavioral abnormalities (Shimokawa, et al., Am J Med Genet A. 2005;136;49-51; PMID: 15937941; Ballarati et al., Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. PMID: 20969981; Priest et al., PLoS Genet. 2016 Apr 8;12(4):e1005963. PMID: 27058611). Haploinsufficiency of GATA4 is associated with autosomal dominant atrial septal defect-2 (OMIM 607941). NEIL2 (OMIM 608933) is one of the candidate genes for cardiac defects and diaphragmatic hernia (Keitges EA, et al., Am J Med Genet A. 2013 Jul;161A(7):1755-8; PMID: 23696316).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 1, 2024