nsv7093497

Description:NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTT
TTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) 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

Select assembly:

Overlapping variant regions from other studies: 85 SVs from 19 studies. See in: genome view

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv7093497	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000010.11	Chr10	87,933,179	87,933,179
nsv7093497	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000010.10	Chr10	89,692,936	89,692,936

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18785993	insertion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV002889281.1, VCV002026676.1

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv18785993	Submitted genomic	NC_000010.11:g.879 33179_87933180ins1 19	GRCh38 (hg38)	NC_000010.11	Chr10	87,933,179	87,933,179
nssv18785993	Submitted genomic	NC_000010.10:g.896 92936_89692937ins1 19	GRCh37 (hg19)	NC_000010.10	Chr10	89,692,936	89,692,936

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18785993	GRCh37: NC_000010.10:g.89692936_89692937ins119, GRCh38: NC_000010.11:g.87933179_87933180ins119	insertion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV002889281.1, VCV002026676.1

dbVar