ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2378dup (p.Ala794fs)

dbSNP: rs864622536
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Total submissions: 2
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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) RCV000241437 SCV000299754 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.
Invitae RCV000204571 SCV000261021 pathogenic Hereditary breast ovarian cancer syndrome 2015-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic  (PMID: 20104584). This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.2378dupA), causing a frameshift at codon 794. This creates a premature translational stop signal (p.Ala794Glyfs*7) and is expected to result in an absent or disrupted protein product.

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