ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) (rs373709958)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162732 SCV000213200 likely benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV001081101 SCV000253618 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000421920 SCV000512419 benign not specified 2015-04-17 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.
Color RCV000162732 SCV000684143 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590445 SCV000699670 benign not provided 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1626C>T (p.Ser542Ser) variant involves the alteration of a conserved nucleotide causing a synonymous change, which 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the remove of ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 48/121252 (1/2525) control chromosomes, predominantly observed in the South Asian cohort, 38/16490 (1/434), which is about 37 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant, 1/16000. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of South Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999814 SCV000885119 likely benign Fanconi anemia, complementation group J 2019-06-12 criteria provided, single submitter clinical testing

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