ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.346del (p.Glu116fs)

dbSNP: rs762635795
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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) RCV000238656 SCV000299446 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 RCV000561042 SCV000668435 pathogenic Hereditary cancer-predisposing syndrome 2019-11-04 criteria provided, single submitter clinical testing The c.346delG pathogenic mutation, located in coding exon 5 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 346, causing a translational frameshift with a predicted alternate stop codon (p.E116Nfs*3). This alteration has been reported in at least two affected individuals with breast and/or ovarian cancer (Singh J et al. Breast Cancer Res. Treat., 2018 Jul;170:189-196). 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.
Counsyl RCV000238656 SCV000677845 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759522 SCV000888892 likely pathogenic not provided 2018-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804382 SCV000944291 pathogenic Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu116Asnfs*3) 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 present in population databases (rs762635795, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29470806). ClinVar contains an entry for this variant (Variation ID: 252400). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000238656 SCV004216842 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-02-02 criteria provided, single submitter clinical testing

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