ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln) (rs397507198)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165203 SCV000215915 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001235784 SCV001408489 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 761 of the BRCA1 protein (p.Glu761Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs397507198, ExAC 0.006%). This variant has been observed in individuals with a personal and/or family history of breast and/or ovarian cancer (PMID: 8875986, 30254663). ClinVar contains an entry for this variant (Variation ID: 185726). 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 tolerated, 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.

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