GRCh38/hg38 9q33.1(chr9:116667613-116806157) AND See cases

Germline classification:: Uncertain significance (1 submission)
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:: RCV003223594.2

Allele description [Variation Report for GRCh38/hg38 9q33.1(chr9:116667613-116806157)]

GRCh38/hg38 9q33.1(chr9:116667613-116806157)

Genes:: LOC130002464:ATAC-STARR-seq lymphoblastoid active region 28884 [Gene]
LOC130002466:ATAC-STARR-seq lymphoblastoid active region 28885 [Gene]
LOC130002465:ATAC-STARR-seq lymphoblastoid silent region 20221 [Gene]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 9q33.1
Genomic location:: Chr9: 116667613 - 116806157 (on Assembly GRCh38)
Preferred name:: GRCh38/hg38 9q33.1(chr9:116667613-116806157)

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
SCV003919142	Daryl Scott Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance	unknown	curation	PubMed (2) [See all records that cite these PMIDs] 31690835, 37673932

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919142

Daryl Scott Lab, Baylor College of Medicine

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance

unknown

curation

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	curation

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

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, et al.

Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7.

PubMed [citation]

PMID:: 37673932
PMCID:: PMC10689790

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV003919142.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine