ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) (rs1057519365)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer RCV000416663 SCV000262602 likely pathogenic Carcinoma of colon 2015-11-01 criteria provided, single submitter clinical testing Variant detected by whole exome sequencing in a family presenting aggregation mainly for colorectal cancer but also for gastric cancer
GeneDx RCV000477976 SCV000568501 likely pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRIP1 is denoted c.1702_1703delAA at the cDNA level and p.Asn568TrpfsX9 (N568WfsX9) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAA[AA]TGGG. The deletion causes a frameshift which changes an Asparagine to a Tryptophan at codon 568, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRIP1 c.1702_1703delAA has been observed in individuals with ovarian, breast and colorectal cancer (Rafnar 2011, Esteban-Jurado 2015). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Ambry Genetics RCV000570267 SCV000661490 pathogenic Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000570267 SCV000684152 pathogenic Hereditary cancer-predisposing syndrome 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV000636137 SCV000757569 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn568Trpfs*9) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with colorectal cancer and ovarian cancer (PMID: 25058500, 21964575). ClinVar contains an entry for this variant (Variation ID: 221621). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000663330 SCV000786604 pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2018-06-05 criteria provided, single submitter clinical testing

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