ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter)

dbSNP: rs786203438
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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) RCV000241297 SCV000299951 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 RCV000166742 SCV000217553 pathogenic Hereditary cancer-predisposing syndrome 2021-06-12 criteria provided, single submitter clinical testing The p.E1161* pathogenic mutation (also known as c.3481G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3481. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. 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.
Invitae RCV000461437 SCV000549284 pathogenic Hereditary breast ovarian cancer syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1161*) 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 variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 187055). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759524 SCV000888894 pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing This nonsense variant causes the premature termination of BRCA1 protein synthesis. The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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