ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8254A>T (p.Ile2752Phe) (rs80359072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045463 SCV000073476 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-03-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 2752 of the BRCA2 protein (p.Ile2752Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with breast and/or ovarian cancer (PMID: 21232165, 22366370). ClinVar contains an entry for this variant (Variation ID: 52538). This variant has been classified as neutral based on a gene-specific algorithm using BRCA2 protein likelihood ratios (PMID: 19043619), however, this has not been confirmed with functional data. In summary, this is a rare variant that has been reported in individuals affected with breast cancer and has been classified as neutral based on a gene specific algorithm. However, in the absence of functional and/or segregation data, this variant has been classified as a Variant of Uncertain significance.
Ambry Genetics RCV000130435 SCV000185299 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113898 SCV000147313 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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