ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1408dup (rs1555588399)

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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) RCV000660942 SCV000783180 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 RCV000480026 SCV000571112 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.3091dupA at the cDNA level and p.Ile1031AsnfsX2 (I1031NfsX2) at the protein level. The normal sequence, with the base that is duplicated in braces, is TAAC[A]TTAG. The duplication causes a frameshift which changes an Isoleucine to an Asparagine at codon 1031, and creates a premature stop codon at position 2 of the new reading frame. Using alternate nomenclature, this variant would be defined as BRCA1 3210dupA. 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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