ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) (rs80357101)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221866 SCV000274101 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-26 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077548 SCV000144760 uncertain significance Breast-ovarian cancer, familial 1 1997-02-15 no assertion criteria provided clinical testing
Color RCV000221866 SCV000683105 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-03 criteria provided, single submitter clinical testing
Counsyl RCV000077548 SCV000786176 uncertain significance Breast-ovarian cancer, familial 1 2018-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765364 SCV000896629 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590692 SCV000699032 uncertain significance not provided 2016-03-25 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3424G>C variant affects a non-conserved nucleotide, resulting in amino acid change from Ala to Pro. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was not found in 121250 control chromosomes. In addition, one clinical laboratory classified this variant as pathogenic without evidence to independently evaluate. UMD classifies the variant as a VUS. 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 was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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