ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.158_159delinsTT (p.Ser53Ile) (rs786202417)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165219 SCV000215933 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000459006 SCV000547309 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-09 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 2 nucleotides into exon 3 of the BRIP1 mRNA (c.158_159delGCinsTT). This results in a missense substitution of serine with isoleucine at codon 53 of the BRIP1 protein (p.Ser53Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This dinucleotide change is absent from population databases (rs786202417), but is present as two separate in phase changes (ExAC 0.02%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 185741). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000165219 SCV000689276 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing

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