GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713) 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:: RCV000767655.1

Allele description [Variation Report for GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)]

GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)

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]
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:

Yp11.32-q11.221

Genomic location:

ChrY: 588444 - 19565713 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898277	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Pathogenic (Nov 1, 2018)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898277

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Pathogenic
(Nov 1, 2018)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical 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, SCV000898277.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

Duplications involving this region have been previously reported in patients with developmental delay (PMID: 16879197)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Mar 26, 2023

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