ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+553_787+554del (rs730881458)

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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) RCV000241342 SCV000299582 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000159900 SCV000210011 pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing This deletion of 2 nucleotides is denoted BRCA1 c.1340_1341delTT at the cDNA level and p.Val447AlafsX8 (V447AfsX8) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGAG[delTT]CACT. The deletion causes a frameshift, which changes a Valine to an Alanine at codon 447, and creates a premature stop codon at position 8 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Also defined as BRCA1 c.1459delTT using alternate nomenclature, this variant has been observed in at least one individual with triple negative breast cancer (Wang 2015). We consider BRCA1 c.1430_1431delTT to be pathogenic.

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