ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1018C>T (p.Leu340Phe) (rs755796609)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462189 SCV000547315 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 340 of the BRIP1 protein (p.Leu340Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs755796609, ExAC 0.02%). This variant has been reported in an individual affected with breast cancer (PMID: 26790966). ClinVar contains an entry for this variant (Variation ID: 407835). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000563667 SCV000661552 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000563667 SCV000684106 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001124866 SCV001283870 uncertain significance Fanconi anemia, complementation group J 2017-11-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Leiden Open Variation Database RCV001194724 SCV001364492 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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