ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) (rs80356875)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031034 SCV000299709 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000162852 SCV000213339 pathogenic Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031034 SCV000325272 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585721 SCV000693515 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Glutamic Acid to a Termination codon at amino acid residue 720 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 37453).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000585721 SCV000887637 pathogenic not provided 2017-09-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031034 SCV000053628 pathogenic Breast-ovarian cancer, familial 1 2010-07-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031034 SCV000144315 pathogenic Breast-ovarian cancer, familial 1 1998-04-15 no assertion criteria provided clinical testing

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