ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)

dbSNP: rs276174851
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773265 SCV000906912 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773265 SCV001184883 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing The c.4798_4800delAAT variant (also known as p.N1600del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame AAT deletion at nucleotide positions 4798 to 4800. This results in the in-frame deletion of an asparagine at codon 1600. This alteration has been reported in a South African breast cancer cohort and also in a proband with a personal and family history of esophageal cancer (Hu N et al. Oncogene, 2004 Jan;23:852-8; Francies FZ et al. BMC Cancer, 2015 Nov;15:912). This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001050629 SCV001214748 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-03 criteria provided, single submitter clinical testing This variant, c.4798_4800del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Asn1600del), but otherwise preserves the integrity of the reading frame. 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: 51716). This variant is also known as N1600del. This variant has been observed in individual(s) with breast cancer and/or esophageal cancer (PMID: 14647438, 35039564). This variant is not present in population databases (gnomAD no frequency).
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001050629 SCV002026107 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473348 SCV004211827 uncertain significance Familial cancer of breast 2023-10-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476924 SCV004219655 uncertain significance not provided 2023-09-14 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in an affected individual with breast cancer (PMID: 26577449 (2015)), as well as in an individual with esophageal cancer (PMID: 14647438 (2004)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113343 SCV000146482 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2005-11-29 no assertion criteria provided clinical testing

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