ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3108del (p.Phe1036fs)

dbSNP: rs80357841
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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) RCV000112000 SCV000299882 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 RCV001018674 SCV001179939 pathogenic Hereditary cancer-predisposing syndrome 2019-12-16 criteria provided, single submitter clinical testing The c.3108delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3108, causing a translational frameshift with a predicted alternate stop codon (p.F1036Lfs*12). This alteration has been identified in individuals diagnosed with breast and/or ovarian cancer and in an individual diagnosed with breast and thyroid cancer (Pal T et al. Fam. Cancer, 2001;1:17-24; Donenberg T et al. Breast Cancer Res. Treat., 2016 08;159:131-8; Li A et al. Gynecol. Oncol., 2018 10;151:145-152). Of note, this alteration is also designated as 3227delT in published literature. In addition to the clinical data presented in the literature, 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.
Invitae RCV001388996 SCV001590195 pathogenic Hereditary breast ovarian cancer syndrome 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1036Leufs*12) 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 and ovarian cancer (PMID: 14574011, 27469594, 30078507). This variant is also known as 3227delT. ClinVar contains an entry for this variant (Variation ID: 54771). For these reasons, this variant has been classified as Pathogenic.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001388996 SCV002025965 pathogenic Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000112000 SCV004216997 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-02-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112000 SCV000144637 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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