ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del) (rs276174851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc 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 and ovarian cancer syndrome 2020-05-20 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 11 of the BRCA2 mRNA (c.4798_4800delAAT). This leads to the deletion of 1 amino acid residue in the BRCA2 protein (p.Asn1600del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with esophageal cancer, although it was absent from another affected family member with esophageal cancer. It was also observed in six unaffected carrier individuals within the same family (PMID: 14647438). This variant is also known as N1600del in the literature. ClinVar contains an entry for this variant (Variation ID: 51716). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113343 SCV000146482 uncertain significance Breast-ovarian cancer, familial 2 2005-11-29 no assertion criteria provided clinical testing

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