ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)

dbSNP: rs764585550
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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 RCV000536251 SCV000633585 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2024-05-14 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BRIP1 mRNA. The next in-frame methionine is located at codon 4. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with breast cancer (PMID: 34326862). ClinVar contains an entry for this variant (Variation ID: 461090). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV000571784 SCV000668892 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-17 criteria provided, single submitter clinical testing The p.M1? variant (also known as c1A>T) is located in coding exon 1 of the BRIP1 gene and results from a A to T substitution at nucleotide position 1. This alters the methionine residue at the initiation codon (ATG). Variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame; however, there is an in-frame methionine 3 amino acids from the initiation site, which may result in N-terminal truncation of unknown functional significance. Based on the available evidence, the clinical significance of this variant remains unclear.

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