Submissions for variant NM_000465.4(BARD1):c.216-14del

dbSNP: rs56130510

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130788	SCV000185681	benign	Hereditary cancer-predisposing syndrome	2013-10-11	criteria provided, single submitter	clinical testing	Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx	RCV000130788	SCV000209815	benign	Hereditary cancer-predisposing syndrome	2014-01-31	criteria provided, single submitter	clinical testing	The variant is found in BR-OV-HEREDIC panel(s).
Illumina Laboratory Services, Illumina	RCV000271079	SCV000427222	likely benign	Breast neoplasm	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000130788	SCV000688177	benign	Hereditary cancer-predisposing syndrome	2015-04-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001795251	SCV004024636	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356530	SCV001551729	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing	The BARD1 c.216-14delT variant was not identified in the literature nor was it identified in the Cosmic, MutDB, Zhejiang Colon Cancer Database, NHLBI Exome Sequencing Project databases. The variant was identified in dbSNP (ID: rs56130510) as “With Likely benign allele”, ClinVar (classified benign by Ambry Genetics and GeneDx; and likely benign by Illumina), Clinvitae (2x), and in the 1000 Genomes Project at a frequency of 5%, as well as in HAPMAP-SAS in 488 of 978 chromosomes (frequency: 0.5)/-AMR in 334 of 694 chromosomes (frequency: 0.5)/-EUR in 442 of 1006 chromosomes (frequency: 0.4), and the Exome Aggregation Consortium (August 8th 2016) control database in 1 of 976 chromosomes (frequency 0.001). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001795251	SCV002035243	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795251	SCV002036816	benign	not specified		no assertion criteria provided	clinical testing