Submissions for variant NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) (rs116952709)

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000120404	SCV000167435	benign	not specified	2013-12-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000131536	SCV000186531	benign	Hereditary cancer-predisposing syndrome	2014-08-08	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae	RCV001084094	SCV000218946	benign	Familial cancer of breast; Fanconi anemia, complementation group J	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000313578	SCV000404615	likely benign	Neoplasm of the breast	2016-06-14	criteria provided, single submitter	clinical testing
Counsyl	RCV000408974	SCV000489861	benign	Fanconi anemia, complementation group J	2016-08-15	criteria provided, single submitter	clinical testing
Counsyl	RCV000410510	SCV000489862	benign	Neoplasm of ovary	2016-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120404	SCV000600922	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Color	RCV000131536	SCV000684280	benign	Hereditary cancer-predisposing syndrome	2015-04-22	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000589730	SCV000699727	benign	not provided	2016-07-01	criteria provided, single submitter	clinical testing	Variant summary: The BRIP1 c.430G>A (p.Ala144Thr) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 164/121364 control chromosomes (2 homozygotes) at a frequency of 0.0013513, which is approximately 22 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000589730	SCV000889216	benign	not provided	2017-02-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120404	SCV000084556	not provided	not specified	2013-09-19	no assertion provided	reference population
True Health Diagnostics	RCV000131536	SCV000787970	likely benign	Hereditary cancer-predisposing syndrome	2017-10-26	no assertion criteria provided	clinical testing
Leiden Open Variation Database	RCV000120404	SCV001364459	benign	not specified	2019-08-13	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.