ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3869_3870del (p.Lys1290fs) (rs80357918)

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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 RCV000213665 SCV000274139 pathogenic Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112206 SCV000144906 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112206 SCV000325776 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112206 SCV000282319 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000048362 SCV000699079 pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3869_3870delAA (p.Lys1290Metfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and has been reported in multiple affected individuals via publications. In addition, multiple reputable databases/clinical laboratories cites the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Invitae RCV000048362 SCV000076375 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1290Metfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals with breast, ovarian, cervical and endometrial cancer and/or a family history of an HBOC-related cancer (PMID: 7606717, 7837387, 10486320, 26026974, 26187060). This variant is also known as 3986delAA and a 2 bp deletion at 3989-3990 in the literature. ClinVar contains an entry for this variant (Variation ID: 55032). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508651 SCV000605858 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing

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