ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+465del (rs876660623)

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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) RCV000661274 SCV000783539 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000218101 SCV000278199 pathogenic Hereditary cancer-predisposing syndrome 2015-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000484830 SCV000566559 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.1252delG at the cDNA level and p.Glu418ArgfsX2 (E418RfsX2) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 1371delG. The normal sequence, with the base that is deleted in braces, is AAAT[G]AGGT. The deletion causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 418, and creates a premature stop codon at position 2 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.
Invitae RCV000823802 SCV000964672 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu418Argfs*2) 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: 233760). 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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