ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9435_9443del (p.Phe3146_Ala3148del)

dbSNP: rs587782367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131333 SCV000186307 uncertain significance Hereditary cancer-predisposing syndrome 2013-08-12 criteria provided, single submitter clinical testing ​The c.9435_9443delGTTTTCTGC variant (also known as 9663del9) is located in coding exon 24 of the BRCA2 gene. This variant results from a deletion of nine nucleotides between positions 9435 and 9443, causing an in-frame deletion of three well-conserved amino acids at codons 3146-3148. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. Since supporting evidence is limited at this time, the clinical significance of c.9435_9443delGTTTTCTGC remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706220 SCV000835259 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 142295). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.9435_9443del, results in the deletion of 3 amino acid(s) of the BRCA2 protein (p.Phe3146_Ala3148del), but otherwise preserves the integrity of the reading frame.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735626 SCV000863764 uncertain significance Breast and/or ovarian cancer no assertion criteria provided clinical testing

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