ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1587_788-1586del (rs878854940)

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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) RCV000661054 SCV000783301 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000233519 SCV000289765 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His971Argfs*20) 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: 240783). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000481177 SCV000570594 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA1 is denoted c.2912_2913delAT at the cDNA level and p.His971ArgfsX20 (H971RfsX20) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAC[AT]GGAC. The deletion causes a frameshift which changes a Histidine to an Arginine at codon 971, and creates a premature stop codon at position 20 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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