ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn)

dbSNP: rs764921920
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481872 SCV000569707 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 3299T>A; This variant is associated with the following publications: (PMID: 9002670, 22193408)
Labcorp Genetics (formerly Invitae), Labcorp RCV000545081 SCV000635264 likely benign Hereditary breast ovarian cancer syndrome 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319505 SCV002606829 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-03 criteria provided, single submitter clinical testing The p.I1024N variant (also known as c.3071T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 3071. The isoleucine at codon 1024 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV002319505 SCV003850357 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
All of Us Research Program, National Institutes of Health RCV003483635 SCV004838875 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2024-01-11 criteria provided, single submitter clinical testing
Department of Medical and Surgical Sciences, University of Bologna RCV003483635 SCV004228393 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-09-01 no assertion criteria provided clinical testing BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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