ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) (rs80357486)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000587513 SCV000076542 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165183 SCV000215895 benign Hereditary cancer-predisposing syndrome 2015-05-07 criteria provided, single submitter clinical testing
Counsyl RCV000083207 SCV000488379 uncertain significance Breast-ovarian cancer, familial 1 2016-03-10 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414754 SCV000492487 uncertain significance Neoplasm of the breast criteria provided, single submitter research
GeneDx RCV000420110 SCV000518441 likely benign not specified 2017-08-28 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.
Genetic Services Laboratory, University of Chicago RCV000420110 SCV000593677 uncertain significance not specified 2016-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587513 SCV000699133 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4342A>G (p.Ser1448Gly) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). Ser1448 is not highly conserved in vertebrates and is not located in a known functional domain of the Breast cancer type 1 susceptibility protein. Multiple assays have shown that this variant has no impact on function, including a Cisplatin (anticancer drug) sensitivity assay, transcription activation assay, and the ability to support growth proliferation in deficient embryonic stem cells (Bouwman_Cancer Discovery_2013 and Woods_GenomicMed_2016). This variant was found in 2/121452 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant has been reported in 3 breast/ovarian cancer patients in the literature without evidence of causality (i.e co-segregation studies). One patient reported in the UMD database carried a pathogenic BRCA2 co-occurrence, c.3545_3546delTT (p.Phe1182X). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as either Benign (without evidence to independently evaluate) or a VUS. Taken together, this variant is classified as a VUS-possibly benign until additional information is available.
Color RCV000165183 SCV000903267 benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Mendelics RCV000083207 SCV001140528 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083207 SCV000115281 benign Breast-ovarian cancer, familial 1 2012-03-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083207 SCV000145062 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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