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GRCh37/hg19 8p23.3-22(chr8:194617-13947374) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
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:
RCV000767676.1

Allele description [Variation Report for GRCh37/hg19 8p23.3-22(chr8:194617-13947374)]

GRCh37/hg19 8p23.3-22(chr8:194617-13947374)

Genes:
  • AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • XKR5:XK related 5 [Gene - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
  • DEFA1B:defensin alpha 1B [Gene - HGNC]
  • DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
  • DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
  • DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
  • DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - 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]
  • DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [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]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MYOM2:myomesin 2 [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]
  • SGCZ:sarcoglycan zeta [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]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
  • USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
  • USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
  • ZNF705B:zinc finger protein 705B [Gene - HGNC]
  • ZNF705D:zinc finger protein 705D [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.3-22
Genomic location:
Chr8: 194617 - 13947374 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-22(chr8:194617-13947374)
Observations:
1

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
SCV000898298Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknown11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot provided1not provided1not provided

Last Updated: Sep 1, 2024