ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)

dbSNP: rs1064794177
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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) RCV000661107 SCV000783355 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.
GeneDx RCV000479678 SCV000568092 pathogenic not provided 2021-07-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Counsyl RCV000661107 SCV000784787 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-10-06 criteria provided, single submitter clinical testing

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