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GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1 AND Sex reversal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2019
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:
RCV001090080.1

Allele description [Variation Report for GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1]

GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1

Genes:
  • TGIF2LY:TGFB induced factor homeobox 2 like Y-linked [Gene - OMIM - 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]
  • TSPY2:testis specific protein Y-linked 2 [Gene - HGNC]
  • TTTY1B:testis-specific transcript, Y-linked 1B [Gene - HGNC]
  • TTTY21B:testis-specific transcript, Y-linked 21B [Gene - HGNC]
  • TTTY23B:testis-specific transcript, Y-linked 23B [Gene - HGNC]
  • TTTY2B:testis-specific transcript, Y-linked 2B [Gene - HGNC]
  • TTTY7:testis-specific transcript, Y-linked 7 [Gene - HGNC]
  • TTTY8B:testis-specific transcript, Y-linked 8B [Gene - HGNC]
  • ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yp11.31-11.2
Genomic location:
ChrY: 2650140 - 6367818 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Sex reversal
    Identifiers:
    MedGen: C4022995; Human Phenotype Ontology: HP:0012245

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001132771Center for Advanced Diagnostics, Brigham and Women's Hospital
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Dec 3, 2019)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes1not 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 Center for Advanced Diagnostics, Brigham and Women's Hospital, SCV001132771.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 26, 2023