Submissions for variant NM_000059.4(BRCA2):c.68-7dup

dbSNP: rs276174878

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000031647	SCV000221128	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-02-11	criteria provided, single submitter	literature only
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080119	SCV000252613	benign	Hereditary breast ovarian cancer syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580625	SCV000683812	benign	Hereditary cancer-predisposing syndrome	2016-05-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589700	SCV000695004	benign	not provided	2016-06-10	criteria provided, single submitter	clinical testing	Variant summary: The BRCA2 c.68-7dupT variant involves an insertion of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 118368 control chromosomes. This variant has been observed to co-occur with another potentially pathogenic variant in BRCA1 (Press_2008) and BRCA2 c.1813dup/p.Ile605AsnfsX11 (UMD) and c.1949_1950delTA/p.Ile650LysfsX22 (Diez_2011). One internal sample also carried a pathogenic BRCA1 variant c.5387C>A/p.Ser1796X. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as Benign.
GeneDx	RCV000589700	SCV001894974	benign	not provided	2015-03-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000580625	SCV002536272	likely benign	Hereditary cancer-predisposing syndrome	2021-01-28	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267806	SCV002550236	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490439	SCV002800206	likely benign	Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3	2021-09-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149599	SCV003838140	likely benign	Breast and/or ovarian cancer	2022-04-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532454	SCV004733508	likely benign	BRCA2-related disorder	2019-07-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen	RCV000589700	SCV005075148	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	BRCA2: BP4
Sharing Clinical Reports Project (SCRP)	RCV000031647	SCV000054254	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2012-05-03	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000589700	SCV001906269	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000589700	SCV001928840	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589700	SCV001964385	likely benign	not provided		no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000031647	SCV004244228	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2020-03-02	no assertion criteria provided	clinical testing