ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7857G>C (p.Trp2619Cys) (rs80359011)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574330 SCV000661222 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000574330 SCV000904373 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV000692296 SCV000820110 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 2619 of the BRCA2 protein (p.Trp2619Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with personal and/or family history of breast and/or ovarian cancer (PMID: 29681614). ClinVar contains an entry for this variant (Variation ID: 438744). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their 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.
School of Basic Medicine,Fourth Military Medical University RCV000664330 SCV000599883 likely pathogenic Breast-ovarian cancer, familial 2 2017-09-19 criteria provided, single submitter research This variation is identified in a proband with familial breast cancer and verified by co-segregation analysis in her family.

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