ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg) (rs373655067)

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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 RCV000129452 SCV000184222 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-26 criteria provided, single submitter clinical testing Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239324 SCV000296316 uncertain significance not specified 2016-10-10 criteria provided, single submitter clinical testing
Color RCV000129452 SCV000682986 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing
Invitae RCV000637642 SCV000759109 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 60 of the BRCA1 protein (p.Gln60Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs373655067, ExAC 0.01%). This variant has been reported in individuals affected with breast cancer (PMID: 18284688). ClinVar contains an entry for this variant (Variation ID: 141093). An experimental study has shown that this missense change does not affect BRCA1-BARD1 binding in a yeast two-hybrid assay. In this same study this missense change partially impaired the E3 ligase activity of the BRCA1 protein in vitro (PMID: 25823446). 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.
Mendelics RCV000637642 SCV000839314 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000239324 SCV000916707 uncertain significance not specified 2017-10-27 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.179A>G (p.Gln60Arg) variant causes a missense change involving the alteration of a conserved nucleotide and 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO and Mutation Taster not captured due to low reliability index and p-value, respectively). This variant was found in 3/276780 control chromosomes (gnomAD) at a frequency of 0.0000108, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)."
Brotman Baty Institute,University of Washington RCV001075967 SCV001241629 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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