ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu) (rs80358523)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163028 SCV000213516 likely benign Hereditary cancer-predisposing syndrome 2017-01-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV001109534 SCV001266879 uncertain significance Fanconi anemia, complementation group D1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000113070 SCV001266880 uncertain significance Breast-ovarian cancer, familial 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001339978 SCV001533763 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 869 of the BRCA2 protein (p.Ser869Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast cancer (PMID: 18497862). This variant is also known as 2834C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 51314). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Based on a multifactorial likelihood algorithm using genetic, in silico, and statistical data, this variant has been determined to have a low probability of being pathogenic (PMID: 16489001). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113070 SCV000146081 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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