VCV001703573.1 - ClinVar

GRCh37/hg19 13p13-q34(chr13:1-115169878)

Interpretation:: Pathogenic
Review status:: no assertion criteria provided
Submissions:: 1
First in ClinVar:: Sep 3, 2022
Most recent Submission:: Sep 3, 2022
Accession:: VCV001703573.1
Variation ID:: 1703573
Description:: copy number gain

GRCh37/hg19 13p13-q34(chr13:1-115169878)

Allele ID: 1695964
Variant type: copy number gain
Variant length: -
Cytogenetic location: 13p13-q34
Genomic location: 13: 1-115169878 (GRCh37) GRCh37 UCSC
HGVS: -
Protein change: -
Other names: -
Canonical SPDI: -
Functional consequence: -
Global minor allele frequency (GMAF): -
Allele frequency: -
Links: VarSome

Aggregate interpretations per condition

Interpreted condition	Interpretation	Number of submissions	Review status	Last evaluated	Variation/condition record
Complete trisomy 13 syndrome	Pathogenic	1	no assertion criteria provided	-	RCV002280659.1

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation viewer	Related variants
Gene	OMIM	HI score Help	TS score Help	Variation viewer	Within gene	All
BRCA2		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	17401	17549
NBEA		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	391	467
POLR1D		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	65	111
RB1		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	2779	2917
ZIC2		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	236	359
CHAMP1		Some evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	173	287
ATP8A2		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh38 GRCh37	404	444
EDNRB		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	70	316
CBY2		Dosage sensitivity unlikely	No evidence available	GRCh38 GRCh37	14	68
GJB2		Dosage sensitivity unlikely	No evidence available	GRCh38 GRCh37	511	573

There are 324 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

Interpretation (Last evaluated)	Review status (Assertion criteria)	Condition (Inheritance)	Submitter	More information
Pathogenic (-)	no assertion criteria provided Method: clinical testing	- Complete trisomy 13 syndrome Affected status: yes Allele origin: unknown	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital Accession: SCV002568924.1 First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022	Clinical Features: Abnormal facial shape (present)

Functional evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 15, 2023

ClinVar Genomic variation as it relates to human health

GRCh37/hg19 13p13-q34(chr13:1-115169878)

GRCh37/hg19 13p13-q34(chr13:1-115169878)

Aggregate interpretations per condition

Submitted interpretations and evidence

Functional evidence

Citations for this variant