nsv6314574

Description:NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTN
NNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA
AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) 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
nsv6314574	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000010.11	Chr10	87,933,178	87,933,178
nsv6314574	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000010.10	Chr10	89,692,935	89,692,935

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974698	insertion	Multiple	Multiple	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001916894.4, VCV001421391.4

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17974698	Submitted genomic	NC_000010.11:g.879 33178_87933179ins1 31	GRCh38 (hg38)	NC_000010.11	Chr10	87,933,178	87,933,178
nssv17974698	Submitted genomic	NC_000010.10:g.896 92935_89692936ins1 31	GRCh37 (hg19)	NC_000010.10	Chr10	89,692,935	89,692,935

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974698	GRCh37: NC_000010.10:g.89692935_89692936ins131, GRCh38: NC_000010.11:g.87933178_87933179ins131	insertion	germline	Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome	Pathogenic	ClinVar	RCV001916894.4, VCV001421391.4

dbVar