GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2021
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:: RCV002472408.1

Allele description [Variation Report for GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3]

GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3

Genes:

CD63:CD63 molecule [Gene - OMIM - HGNC]
DNAJC14:DnaJ heat shock protein family (Hsp40) member C14 [Gene - OMIM - HGNC]
IKZF4:IKAROS family zinc finger 4 [Gene - OMIM - HGNC]
ORMDL2:ORMDL sphingolipid biosynthesis regulator 2 [Gene - OMIM - HGNC]
PYM1:PYM homolog 1, exon junction complex associated factor [Gene - OMIM - HGNC]
RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
SARNP:SAP domain containing ribonucleoprotein [Gene - OMIM - HGNC]
BLOC1S1:biogenesis of lysosomal organelles complex 1 subunit 1 [Gene - OMIM - HGNC]
CDK2:cyclin dependent kinase 2 [Gene - OMIM - HGNC]
DGKA:diacylglycerol kinase alpha [Gene - OMIM - HGNC]
GDF11:growth differentiation factor 11 [Gene - OMIM - HGNC]
ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]
MMP19:matrix metallopeptidase 19 [Gene - OMIM - HGNC]
PMEL:premelanosome protein [Gene - OMIM - HGNC]
RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]
RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
SUOX:sulfite oxidase [Gene - OMIM - HGNC]
TMT1B:thiol methyltransferase 1B [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

12q13.2

Genomic location:

Chr12: 56056806 - 56438901 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Caenorhabditis elegans t-SNARE coiled-coil homology domain-containing protein (C...
Caenorhabditis elegans t-SNARE coiled-coil homology domain-containing protein (C50B8.4), mRNA
gi|1845978533|ref|NM_073962.5|

Nucleotide
homeobox protein Hox-B3 isoform X1 [Homo sapiens]
homeobox protein Hox-B3 isoform X1 [Homo sapiens]
gi|2462554860|ref|XP_054171894.1|

Protein
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive cutis laxa type 2, classic type

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002772276	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance (Dec 9, 2021)	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

SCV002772276

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance
(Dec 9, 2021)

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, SCV002772276.1

#	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: Mar 26, 2023

ClinVar

Relating variation to medicine