Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3911069

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:395

Description:NM_007294.3(BRCA1):c.-19-48_80+248delins[U7784
1.1:g.2145_2536] AND Breast-ovarian cancer, familial, susceptibility to, 1
Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, Moyer et al. 2014, Nelson et al. 2013, Nelson et al. 2019, No authors et al. 2014, No authors et al. 2021, Petrucelli et al. 1998, Phillips et al. 2013, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019

Links to Other Resources

Source: NCBI

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

Genome View

Select assembly:

Overlapping variant regions from other studies: 144 SVs from 29 studies. See in: genome view

Submitted genomic43,123,769-43,124,163

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3911069	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	43,123,769	43,124,163
nsv3911069	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000017.10	Chr17	41,275,786	41,276,180

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15149147	delins	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000413783.3, VCV000373856.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15149147	Submitted genomic	NC_000017.11:g.431 23769_43124163deli ns?	GRCh38 (hg38)	NC_000017.11	Chr17	43,123,769	43,124,163
nssv15149147	Submitted genomic	NC_000017.10:g.412 75786_41276180deli ns?	GRCh37 (hg19)	NC_000017.10	Chr17	41,275,786	41,276,180

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
nssv15149147	GRCh37: NC_000017.10:g.41275786_41276180delins?, GRCh38: NC_000017.11:g.43123769_43124163delins?	delins	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000413783.3, VCV000373856.3

No genotype data were submitted for this variant

You are here: NCBI