ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5272_5274del (p.Asn1758del) (rs587780655)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165160 SCV000215871 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing
Color RCV000165160 SCV000906106 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000241419 SCV000301449 uncertain significance Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587736 SCV000694851 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5272_5274delAAT (p.Asn1758del) variant causes a missense change involving the alteration of a non-conserved nucleotide. One in silico tool predicts a disease-causing outcome for this variant. The variant is absent in 120396 control chromosomes within ExAC control database. Multiple clinical diagnostic laboratories/reputable databases classified this variant as a VUS. UMD database found this variant co-occurring with a pathogenic variant in BRCA1 (c.442-4357del; p.Glu149TyrfsX2) and classified it as a VUS. Because of the paucity of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000122916 SCV000166174 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-06-05 criteria provided, single submitter clinical testing This variant, c.5272_5274delAAT, results in the deletion of 1 amino acid of the BRCA2 protein (p.Asn1758del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587780655, ExAC 0.009%). This variant has been reported in the literature in individuals affected with breast or ovarian cancer (PMID: 27495310, 24549055). ClinVar contains an entry for this variant (Variation ID: 185693). 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, this variant has uncertain impact on BRCA2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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