ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala) (rs80357172)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048116 SCV000076129 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1087 of the BRCA1 protein (p.Gly1087Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54812). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000130262 SCV000185106 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000212172 SCV000210144 uncertain significance not provided 2014-01-07 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3260G>C at the cDNA level, p.Gly1087Ala (G1087A) at the protein level, and results in the change of a Glycine to an Alanine (GGG>GCG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gly1087Ala was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is only moderately conserved throughout evolution and is not located in a known functional domain (UniProt). In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on the currently available information, we consider BRCA1 Gly1087Ala to be a variant of uncertain significance.
Color RCV000130262 SCV000909311 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212172 SCV001133548 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112040 SCV000144693 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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