ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8986T>A (p.Leu2996Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004434274 SCV004915403 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-12 criteria provided, single submitter clinical testing The c.8986T>A (p.L2996I) alteration is located in exon 23 (coding exon 22) of the BRCA2 gene. This alteration results from a T to A substitution at nucleotide position 8986, causing the leucine (L) at amino acid position 2996 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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