NC_000015.10:g.44330225_44821972dup AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 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:: RCV003313908.1

Allele description [Variation Report for NC_000015.10:g.44330225_44821972dup]

NC_000015.10:g.44330225_44821972dup

Genes:

LOC130056972:ATAC-STARR-seq lymphoblastoid active region 9340 [Gene]
LOC130056973:ATAC-STARR-seq lymphoblastoid active region 9341 [Gene]
LOC130056974:ATAC-STARR-seq lymphoblastoid active region 9342 [Gene]
LOC130056975:ATAC-STARR-seq lymphoblastoid active region 9344 [Gene]
LOC130056976:ATAC-STARR-seq lymphoblastoid active region 9345 [Gene]
LOC130056977:ATAC-STARR-seq lymphoblastoid active region 9346 [Gene]
LOC130056978:ATAC-STARR-seq lymphoblastoid active region 9347 [Gene]
LOC130056968:ATAC-STARR-seq lymphoblastoid silent region 6395 [Gene]
LOC130056969:ATAC-STARR-seq lymphoblastoid silent region 6396 [Gene]
LOC130056970:ATAC-STARR-seq lymphoblastoid silent region 6397 [Gene]
LOC130056971:ATAC-STARR-seq lymphoblastoid silent region 6398 [Gene]
CTDSPL2:CTD small phosphatase like 2 [Gene - OMIM - HGNC]
EIF3J-DT:EIF3J divergent transcript [Gene - HGNC]
PATL2:PAT1 homolog 2 [Gene - OMIM - HGNC]
SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]
LOC121847945:Sharpr-MPRA regulatory region 1044 [Gene]
LOC125078072:Sharpr-MPRA regulatory region 4183 [Gene]
LOC125078071:Sharpr-MPRA regulatory region 4328 [Gene]
B2M:beta-2-microglobulin [Gene - OMIM - HGNC]
EIF3J:eukaryotic translation initiation factor 3 subunit J [Gene - OMIM - HGNC]
GOLM2:golgi membrane protein 2 [Gene - HGNC]
MIR10393:microRNA 10393 [Gene - HGNC]
TRIM69:tripartite motif containing 69 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q15.3-21.1

Genomic location:

Chr15: 44330225 - 44821972 (on Assembly GRCh38)

Preferred name:

NC_000015.10:g.44330225_44821972dup

HGVS:

NC_000015.10:g.44330225_44821972dup

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004013135	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 17, 2021)	germline	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

SCV004013135

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 17, 2021)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV004013135.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine