ClinVar Miner

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

dbSNP: rs80356875
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Total submissions: 8
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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, susceptibility to, 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 The p.E720* pathogenic mutation (also known as c.2158G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2158. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been identified in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Tworek H et al. Cancer Genet. Cytogenet. 1999 Jul;112:105-18; Laitman Y et al. Breast Cancer Res. Treat. 2011 Jun;127:489-95; El Saghir NS et al. Oncologist. 2015 Apr;20:357-64). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031034 SCV000325272 pathogenic Breast-ovarian cancer, familial, susceptibility to, 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
Invitae RCV001386504 SCV001586758 pathogenic Hereditary breast ovarian cancer syndrome 2022-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu720*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10686936, 25777348, 26187060, 29446198). ClinVar contains an entry for this variant (Variation ID: 37453). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031034 SCV000053628 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2010-07-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031034 SCV000144315 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1998-04-15 no assertion criteria provided clinical testing

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