ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) (rs587781614)

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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 RCV000129702 SCV000184503 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing Insufficient evidence
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240694 SCV000265881 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000587810 SCV000698890 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1824_1826delGAA (p.Lys608del) variant involves the in-frame deletion of 3 nucleotides. One in silico tool predicts a polymorphism outcome for this variant. This variant was found in 4/121088 control chromosomes at a frequency of 0.000033, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. One reputable database cites the variant in an individual who also carries a pathogenic BRCA1 variant (BRCA1 c.3481_3491del [p.Glu1161PhefsX3]), suggesting the variant of interest is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, the variant is classified as a VUS-possibly benign until additional information becomes available.
Invitae RCV000637530 SCV000758993 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-04 criteria provided, single submitter clinical testing This variant, c.1824_1826del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.Lys608del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587781614, ExAC 0.006%). This variant has been reported in an individual affected with breast cancer (PMID: 27257965). ClinVar contains an entry for this variant (Variation ID: 141263). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587810 SCV000888851 uncertain significance not provided 2018-01-08 criteria provided, single submitter clinical testing
Color RCV000129702 SCV000912048 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000587810 SCV001249212 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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