ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2717del (p.Lys906fs)

dbSNP: rs876659072
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Total submissions: 3
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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) RCV000661218 SCV000783478 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000219226 SCV000275088 pathogenic Hereditary cancer-predisposing syndrome 2020-06-09 criteria provided, single submitter clinical testing The c.2717delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2717, causing a translational frameshift with a predicted alternate stop codon (p.K906Rfs*94). This mutation has been identified in a cohort of Chinese breast cancer patients (Li JY et al. Int. J. Cancer. 2019 01;144(2):281-289). 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 RCV001230419 SCV001402897 pathogenic Hereditary breast ovarian cancer syndrome 2023-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys906Argfs*94) 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 a personal and/or family history of breast and/or ovarian cancer (PMID: 29752822). ClinVar contains an entry for this variant (Variation ID: 231289). For these reasons, this variant has been classified as Pathogenic.

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