ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)

dbSNP: rs786203587
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Total submissions: 4
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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) RCV000241281 SCV000299888 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 RCV000166966 SCV000217787 pathogenic Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing The p.E1053* pathogenic mutation (also known as c.3157G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3157. This changes the amino acid at codon 1053 from a glutamic acid to a stop codon. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV001058924 SCV001223524 pathogenic Hereditary breast ovarian cancer syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1053*) 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 BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 187251). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003314570 SCV004014561 pathogenic not provided 2023-01-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3276G>T; Observed in an individual with ovarian cancer (Lilyquist et al., 2017); This variant is associated with the following publications: (PMID: 31853058, 32377563, 28888541, 34585039)

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