ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.252_254del (p.Glu85del)

dbSNP: rs1064797221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487527 SCV000575105 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001856886 SCV002184133 uncertain significance Hereditary breast ovarian cancer syndrome 2020-11-03 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with breast cancer (PMID: 14973102). ClinVar contains an entry for this variant (Variation ID: 425132). This variant is not present in population databases (ExAC no frequency). This variant, c.252_254del, results in the deletion of 1 amino acid of the BRCA1 protein (p.Glu85del), but otherwise preserves the integrity of the reading frame.

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