ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)

dbSNP: rs80357636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077113 SCV000299812 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000165785 SCV000216530 pathogenic Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing The c.2686dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2686, causing a translational frameshift with a predicted alternate stop codon (p.S896Kfs*7). This mutation, designated as c.2686_2687insA, has been identified in high risk breast cancer families in Trinidad and Tobago and Iran (Donenberg T et al. Breast Cancer Res. Treat., 2016 08;159:131-8; Ebrahimi E et al. Cancer Prev Res (Phila), 2019 Nov;12:763-770). In addition to the published data, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077113 SCV000325432 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000077113 SCV000746299 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854352 SCV002177435 pathogenic Hereditary breast ovarian cancer syndrome 2024-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser896Lysfs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 27469594). This variant is also known as c.2686_2687insA. ClinVar contains an entry for this variant (Variation ID: 91596). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077113 SCV000108910 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-12-06 no assertion criteria provided clinical testing

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