ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8153T>C (p.Ile2718Thr) (rs80359060)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045432 SCV000073445 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2718 of the BRCA2 protein (p.Ile2718Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs80359060, ExAC 0.01%). This variant has been observed in individuals affected with breast cancer (PMID: 20859677, 29088781, Invitae). However, in one of these individuals a pathogenic allele was also identified in BRCA2, which suggests that this c.8153T>C variant was not the primary cause of disease. This variant is also known as 8381T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 38140). An algorithm developed specifically for the BRCA2 gene suggests that this missense change is likely to be tolerated (PMID: 19043619). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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.
Color RCV000583191 SCV000689100 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
Counsyl RCV000031722 SCV000786481 uncertain significance Breast-ovarian cancer, familial 2 2018-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000031722 SCV001139207 uncertain significance Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031722 SCV000054329 uncertain significance Breast-ovarian cancer, familial 2 2010-05-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031722 SCV000147283 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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