ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) (rs80357253)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586793 SCV000075395 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130521 SCV000185390 likely benign Hereditary cancer-predisposing syndrome 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000426822 SCV000522017 likely benign not specified 2017-10-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586793 SCV000698835 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1222A>G (p.Lys408Glu) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant (SNPs&GO and MutationTaster not captured due to low reliability index). This variant is absent in 121218 control chromosomes. Clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign, without evidence to independently evaluate. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence 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.
Color RCV000130521 SCV000911276 benign Hereditary cancer-predisposing syndrome 2017-01-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000030980 SCV000053572 benign Breast-ovarian cancer, familial 1 2009-11-06 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000030980 SCV000144033 uncertain significance Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing

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