ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.*78del (rs1555574355)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589978 SCV000699272 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing Variant summary: The c.5564delT variant creates a lost stop codon and creates a stop codon 67 amino acids downstream, resulting in an elongated protein. The variant is absent in the large ExAC control population, and has not been reported in databases or literature. Due to the absence of sufficient information, this variant has been classified as a VUS until additional evidence becomes available.
GeneDx RCV000589978 SCV000779243 likely pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.5564delT at the cDNA level and p.Ile1855AsnfsX67 (I1855NfsX67) at the protein level. The normal sequence, with the base that is deleted in brackets, is CTGA[delT]ACCC. The deletion causes a frameshift which changes an Isoleucine to an Asparagine at codon 1855 in the last exon of the gene, and results in an extension of the protein. The last 9 correct amino acids are replaced by 66 incorrect ones, disrupting a region that contains the BRCT2 domain and a region known to interact with multiple other proteins (Paul 2014, UniProt). Based on currently available evidence, we consider this deletion to be a likely pathogenic variant.

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