GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2023
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:: RCV003485159.1

Allele description [Variation Report for GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3]

GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3

Genes:

PRAC1:PRAC1 small nuclear protein [Gene - OMIM - HGNC]
PRAC2:PRAC2 small nuclear protein [Gene - OMIM - HGNC]
HOXB13:homeobox B13 [Gene - OMIM - HGNC]
HOXB2:homeobox B2 [Gene - OMIM - HGNC]
HOXB3:homeobox B3 [Gene - OMIM - HGNC]
HOXB4:homeobox B4 [Gene - OMIM - HGNC]
HOXB5:homeobox B5 [Gene - OMIM - HGNC]
HOXB6:homeobox B6 [Gene - OMIM - HGNC]
HOXB7:homeobox B7 [Gene - OMIM - HGNC]
HOXB8:homeobox B8 [Gene - OMIM - HGNC]
HOXB9:homeobox B9 [Gene - OMIM - HGNC]
MIR10A:microRNA 10a [Gene - OMIM - HGNC]
MIR196A1:microRNA 196a-1 [Gene - OMIM - HGNC]
TTLL6:tubulin tyrosine ligase like 6 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q21.32

Genomic location:

Chr17: 46612536 - 46845102 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004231085	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance (May 10, 2023)	unknown	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

SCV004231085

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance
(May 10, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004231085.1

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

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

Last Updated: Feb 4, 2024

ClinVar

Relating variation to medicine