ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3415_3417AGT[1] (p.Ser1140del) (rs80358337)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203658 SCV000076201 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131331 SCV000186305 likely benign Hereditary cancer-predisposing syndrome 2017-04-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000048188 SCV000209953 likely benign not specified 2018-01-25 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.
Counsyl RCV000112093 SCV000488758 uncertain significance Breast-ovarian cancer, familial 1 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000131331 SCV000683102 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589344 SCV000699031 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing Variant summary: The c.3418_3420delAGT variant results in a deletion of a Serine at position 1140. It was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0000082 (1/121250 chrs tested) which does not exceed the maximal expected allele frequency of a disease causing BRCA1 allele. The variant is present in a control population dataset of gnomAD at a frequency of 0.000022 (6/276940 chrs), exclusively in individuals of European descent: 0.000047 (6/126574 chrs). However, the possibility of the variant to represent a rare polymorphism cannot be excluded. Indeed, the variant was reported by the BIC database to co-occur with a known pathogenic BRCA1 variant c.5263_5264insC (p.Ser1755fs) in two individuals indicating neutrality. Furthermore, several clinical diagnostic centers classify variant as Likely Benign via ClinVar (without evidence to independently evaluate). To our knowledge, in vivo/vitro studies evaluating the impact of the variant may have on the function of the BRCA1 protein were not reported in the literature at the time of scoring. Considering all evidence, the variant was classified as a VUS-possibly benign until more information becomes available.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112093 SCV000144759 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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