ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)

dbSNP: rs587780834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686121 SCV000813624 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-12-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 566343). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 234 of the BRIP1 protein (p.Lys234Thr).
Ambry Genetics RCV004601241 SCV005101025 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-06 criteria provided, single submitter clinical testing The p.K234T variant (also known as c.701A>C), located in coding exon 6 of the BRIP1 gene, results from an A to C substitution at nucleotide position 701. The lysine at codon 234 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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