ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3395A>G (p.Lys1132Arg)

gnomAD frequency: 0.00001  dbSNP: rs80358582
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218723 SCV000276791 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing The c.3395_3396delAAinsGG variant (also known as p.K1132R), located in coding exon 10 of the BRCA2 gene, results from the insertion and deletion of two nucleotides from nucleotide position 3395 to 3396. The lysine at codon 1132 is replaced by arginine, an amino acid with highly similar properties. A similar alteration, c.3395A>G (p.K1132R), was identified in a Japanese breast cancer patient from Hawaii (Carney ME et al. Hawaii Med J. 2010 Nov;69(11):268-71) and in a familial breast cancer patient from Sardinia (Palomba G et al. BMC Cancer. 2009 Jul 20;9:245). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144115 SCV003830153 uncertain significance not provided 2022-01-04 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000218723 SCV003851919 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 RCV004803019 SCV005424378 uncertain significance BRCA2-related cancer predisposition 2024-03-28 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 1132 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer (PMID: 21218378, 19016756). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031419 SCV000054024 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2007-12-13 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031419 SCV000146223 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing

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