ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser) (rs786203689)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167105 SCV000217935 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing The p.N877S variant (also known as c.2630A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2630. The asparagine at codon 877 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000705043 SCV000834022 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-06-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 877 of the BRCA1 protein (p.Asn877Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 187381). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV000167105 SCV000909336 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170819 SCV001333437 uncertain significance Breast and/or ovarian cancer 2017-11-15 criteria provided, single submitter clinical testing

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