ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1114_1115delinsC (p.Asn372fs) (rs1555281742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657422 SCV000779157 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA2 c.1114_1115delAAinsC at the cDNA level and p.Asn372LeufsX27 (N372LfsX27) at the protein level. This variant would be defined as BRCA2 1342_1343delAAinsC using alternate nomenclature. The normal sequence, with the bases that are inserted in brackets, is AGCA[delAA][insC]TCAG. The variant causes a frameshift which changes an Asparagine to a Leucine at codon 372, and creates a premature stop codon at position 27 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. Based on currently available evidence, we consider this variant to be pathogenic.

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