ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe) (rs80359054)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166944 SCV000217764 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000113873 SCV000147275 uncertain significance Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148440 SCV000190139 uncertain significance Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Color RCV000166944 SCV000683940 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-05 criteria provided, single submitter clinical testing
Counsyl RCV000113873 SCV000785937 uncertain significance Breast-ovarian cancer, familial 2 2018-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000486644 SCV000568492 uncertain significance not provided 2016-07-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8111C>T at the cDNA level, p.Ser2704Phe (S2704F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCT>TTT). Using alternate nomenclature, this variant would be defined as BRCA2 8339C>T. This variant has been identified in at least four individuals with a personal and/or family history of breast and/or ovarian cancer (Bergthorsson 2001, Caux-Moncoutier 2009, Sanz 2010, van Harssel 2010). In a mini-gene assay, this variant did not display any defects in splicing (Sanz 2010). BRCA2 Ser2704Phe was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Serine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser2704Phe occurs at a position that is not conserved and is located in the DNA binding domain and SHFM1 binding domain (Marston 1999, Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Ser2704Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000045424 SCV000073437 likely benign Hereditary breast and ovarian cancer syndrome 2017-04-24 criteria provided, single submitter clinical testing

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