NC_000012.12:g.42127457_42199952dup AND Primary amenorrhea

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 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:: RCV000754458.1

Allele description [Variation Report for NC_000012.12:g.42127457_42199952dup]

NC_000012.12:g.42127457_42199952dup

Genes:

LOC130007694:ATAC-STARR-seq lymphoblastoid active region 6209 [Gene]
LOC130007692:ATAC-STARR-seq lymphoblastoid silent region 4357 [Gene]
LOC130007693:ATAC-STARR-seq lymphoblastoid silent region 4358 [Gene]
LOC129390439:MPRA-validated peak1683 silencer [Gene]
YAF2:YY1 associated factor 2 [Gene - OMIM - HGNC]
GXYLT1:glucoside xylosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q12

Genomic location:

Preferred name:

NC_000012.12:g.42127457_42199952dup

HGVS:

NC_000012.12:g.42127457_42199952dup
NC_000012.11:g.42521259_42593754dup

Condition(s)

Name:: Primary amenorrhea
Identifiers:: MedGen: C0232939; Human Phenotype Ontology: HP:0000786

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000787719	Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Likely benign (Jun 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787719

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Likely benign
(Jun 1, 2018)

unknown

research

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	unknown	yes	1	not provided	not provided	not provided	not provided	research

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 Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, SCV000787719.2

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

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

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine