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GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 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:
RCV000847005.2

Allele description [Variation Report for GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2]

GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2

Genes:
  • DDX3Y:DEAD-box helicase 3 Y-linked [Gene - OMIM - HGNC]
  • TGIF2LY:TGFB induced factor homeobox 2 like Y-linked [Gene - OMIM - HGNC]
  • AMELY:amelogenin Y-linked [Gene - OMIM - HGNC]
  • CDY2A:chromodomain Y-linked 2A [Gene - OMIM - HGNC]
  • FAM197Y1P:family with sequence similarity 197 Y-linked member 1, pseudogene [Gene - HGNC]
  • FAM197Y9:family with sequence similarity 197 Y-linked member 9 [Gene - HGNC]
  • NLGN4Y:neuroligin 4 Y-linked [Gene - OMIM - HGNC]
  • PCDH11Y:protocadherin 11 Y-linked [Gene - OMIM - HGNC]
  • RPS4Y1:ribosomal protein S4 Y-linked 1 [Gene - OMIM - HGNC]
  • SRY:sex determining region Y [Gene - OMIM - HGNC]
  • TSPY10:testis specific protein Y-linked 10 [Gene - HGNC]
  • TSPY1:testis specific protein Y-linked 1 [Gene - OMIM - HGNC]
  • TSPY2:testis specific protein Y-linked 2 [Gene - HGNC]
  • TSPY3:testis specific protein Y-linked 3 [Gene - HGNC]
  • TSPY4:testis specific protein Y-linked 4 [Gene - HGNC]
  • TSPY8:testis specific protein Y-linked 8 [Gene - HGNC]
  • TTTY11:testis-specific transcript, Y-linked 11 [Gene - HGNC]
  • TTTY12:testis-specific transcript, Y-linked 12 [Gene - HGNC]
  • TTTY13B:testis-specific transcript, Y-linked 13B [Gene - HGNC]
  • TTTY15:testis-specific transcript, Y-linked 15 [Gene - HGNC]
  • TTTY16:testis-specific transcript, Y-linked 16 [Gene - HGNC]
  • TTTY18:testis-specific transcript, Y-linked 18 [Gene - HGNC]
  • TTTY19:testis-specific transcript, Y-linked 19 [Gene - HGNC]
  • TTTY1:testis-specific transcript, Y-linked 1 [Gene - HGNC]
  • TTTY1B:testis-specific transcript, Y-linked 1B [Gene - HGNC]
  • TTTY20:testis-specific transcript, Y-linked 20 [Gene - HGNC]
  • TTTY21:testis-specific transcript, Y-linked 21 [Gene - HGNC]
  • TTTY21B:testis-specific transcript, Y-linked 21B [Gene - HGNC]
  • TTTY22:testis-specific transcript, Y-linked 22 [Gene - HGNC]
  • TTTY23:testis-specific transcript, Y-linked 23 [Gene - HGNC]
  • TTTY23B:testis-specific transcript, Y-linked 23B [Gene - HGNC]
  • TTTY2:testis-specific transcript, Y-linked 2 [Gene - HGNC]
  • TTTY2B:testis-specific transcript, Y-linked 2B [Gene - HGNC]
  • TTTY7:testis-specific transcript, Y-linked 7 [Gene - HGNC]
  • TTTY7B:testis-specific transcript, Y-linked 7B [Gene - HGNC]
  • TTTY8:testis-specific transcript, Y-linked 8 [Gene - HGNC]
  • TTTY8B:testis-specific transcript, Y-linked 8B [Gene - HGNC]
  • TMSB4Y:thymosin beta 4 Y-linked [Gene - OMIM - HGNC]
  • TBL1Y:transducin beta like 1 Y-linked [Gene - OMIM - HGNC]
  • USP9Y:ubiquitin specific peptidase 9 Y-linked [Gene - OMIM - HGNC]
  • UTY:ubiquitously transcribed tetratricopeptide repeat containing, Y-linked [Gene - OMIM - HGNC]
  • VCY1B:variable charge Y-linked 1B [Gene - OMIM - HGNC]
  • VCY:variable charge Y-linked [Gene - OMIM - HGNC]
  • ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yp11.31-q11.222
Genomic location:
ChrY: 2650140 - 20619847 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000989127Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (May 18, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000989127.1

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

    Last Updated: Mar 26, 2023