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GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1 AND Klinefelter syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV002287643.1

Allele description [Variation Report for GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1]

GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1

Genes:
  • TGIF2LY:TGFB induced factor homeobox 2 like Y-linked [Gene - OMIM - HGNC]
  • AMELY:amelogenin Y-linked [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]
  • 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]
  • 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]
  • 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]
  • TBL1Y:transducin beta like 1 Y-linked [Gene - OMIM - HGNC]
  • ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Yp11.31-11.2
Genomic location:
ChrY: 2650140 - 9651417 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1
HGVS:

    Condition(s)

    Name:
    Klinefelter syndrome
    Synonyms:
    Klinefelter's syndrome; 47,XXY; XXY syndrome; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0006823; MedGen: C0022735

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002577650Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    		Pathogenicunknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002577650.1

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

    Last Updated: Mar 26, 2023