ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8461ATT[1] (p.Ile2822del)

dbSNP: rs587781473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129419 SCV000184189 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-21 criteria provided, single submitter clinical testing The c.8464_8466delATT variant (also known as p.I2822DEL) is located in coding exon 18 of the BRCA2 gene. This variant results from an in-frame deletion of 3 nucleotides (ATT) between positions 8464 and 8466 causing the removal of an isoleucine residue at codon 2822. 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. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.8464_8466delATT remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000699646 SCV000828366 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-14 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 141072). 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.8464_8466del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Ile2822del), but otherwise preserves the integrity of the reading frame.

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