ClinVar Miner

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

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Total submissions: 12
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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
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.

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