ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.*47dup (rs397509294)

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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) RCV000660965 SCV000783204 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 RCV000520200 SCV000617443 pathogenic not provided 2019-01-15 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.5533dupT at the cDNA level and p.Tyr1845LeufsX35 (Y1845LfsX35) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTC[dupT]ACCA. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 1845 in the last exon of the gene, and results in an extension of the protein. The last 19 amino acids are lost and replaced with 34 incorrect amino acids, disrupting the BRCT2 domain and a region known to interact with multiple proteins (Paul 2014, UniProt). BRCA1 c.5533dupT, also reported as BRCA1 c.5533_5534insT and BRCA1 5652insT using alternate nomenclature, has been observed in at least two individuals with suspected Hereditary Breast and Ovarian Cancer (Judkins 2005, Sugano 2008). Based on the currently available information, we consider this duplication to be a pathogenic variant.

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