ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4060_4062AAT[1] (p.Asn1355del) (rs80358341)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132449 SCV000187543 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000168505 SCV000219237 uncertain significance Breast and/or ovarian cancer 2015-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000758822 SCV000293645 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA1 is denoted c.4063_4065delAAT at the cDNA level and p.Asn1355del (N1355del) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 c.4182_4184delAAT. The normal sequence, with the bases that are deleted in brackets, is AAAT[delAAT]CAAG. This variant was observed in at least three breast and/or ovarian cancer families, one of which also carried a pathogenic BRCA1 frameshift variant, phase unknown (Lara 2012, Konstantopoulou 2008, Loizidou 2017). BRCA1 c.4063_4065delAAT was not observed at a significant allele frequency in large population cohorts (Lek 2016). This deletion of a single Asparagine amino acid is located in a region known to interact with multiple proteins (Paul 2014). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA1 Asn1355del to be a variant of uncertain significance.
Counsyl RCV000112237 SCV000785153 uncertain significance Breast-ovarian cancer, familial 1 2017-05-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758822 SCV000887684 uncertain significance not provided 2017-11-24 criteria provided, single submitter clinical testing
Color RCV000132449 SCV000903321 likely benign Hereditary cancer-predisposing syndrome 2016-12-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112237 SCV000144951 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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