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dbVar

Database of genomic structural variation

nsv5674321

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:insertion
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGC
TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA
GATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs) AND PTEN hamartoma tumor syndrome
Publication(s):ACMG Board of Directors et al. 2014, Daly et al. 2014, Eng et al. 2001, Green et al. 2013, Kalia et al. 2016, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schaefer et al. 2013, Syngal et al. 2015

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 82 SVs from 17 studies. See in: genome view

Submitted genomic87,952,187-87,952,187

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5674321	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000010.11	Chr10	87,952,187	87,952,187
nsv5674321	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000010.10	Chr10	89,711,944	89,711,944

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171833	insertion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001389802.5, VCV001076052.5

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17171833	Submitted genomic	NC_000010.11:g.879 52187_87952188ins1 10	GRCh38 (hg38)	NC_000010.11	Chr10	87,952,187	87,952,187
nssv17171833	Submitted genomic	NC_000010.10:g.897 11944_89711945ins1 10	GRCh37 (hg19)	NC_000010.10	Chr10	89,711,944	89,711,944

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171833	GRCh37: NC_000010.10:g.89711944_89711945ins110, GRCh38: NC_000010.11:g.87952187_87952188ins110	insertion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001389802.5, VCV001076052.5

No genotype data were submitted for this variant

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