ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) (rs1064793577)

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Total submissions: 4
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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) RCV000661132 SCV000783382 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000481460 SCV000566495 pathogenic not provided 2015-05-04 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.4392delT at the cDNA level and p.Ile1465Ter (I1465X) at the protein level. The substitution creates a nonsense variant, which changes an Isoleucine to a premature stop codon (ATA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Color RCV000584270 SCV000688494 pathogenic Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000800768 SCV000940500 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1465*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 418999). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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