ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4053A>C (p.Lys1351Asn)

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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 RCV004434270 SCV004915396 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-20 criteria provided, single submitter clinical testing The c.4053A>C (p.K1351N) alteration is located in exon 11 (coding exon 10) of the BRCA2 gene. This alteration results from a A to C substitution at nucleotide position 4053, causing the lysine (K) at amino acid position 1351 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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