ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.728del (p.Asn243fs)

dbSNP: rs886040697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002275346 SCV002563158 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing BRCA2: PVS1, PM2
Ambry Genetics RCV002384384 SCV002672916 pathogenic Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter clinical testing The c.728delA pathogenic mutation, located in coding exon 8 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 728, causing a translational frameshift with a predicted alternate stop codon (p.N243Mfs*8). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genomic Center, National Cancer Institute RCV001310068 SCV001499591 pathogenic Familial cancer of breast no assertion criteria provided case-control

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