ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)

dbSNP: rs138608489
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Total submissions: 5
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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) RCV000241381 SCV000300123 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.
CSER _CC_NCGL, University of Washington RCV000149887 SCV000196735 likely pathogenic Hereditary breast ovarian cancer syndrome 2014-06-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985416 SCV001133585 pathogenic not provided 2018-12-14 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV000149887 SCV001212805 pathogenic Hereditary breast ovarian cancer syndrome 2021-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162502). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1490*) 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).
Ambry Genetics RCV003362690 SCV004055610 pathogenic Hereditary cancer-predisposing syndrome 2023-08-26 criteria provided, single submitter clinical testing The p.E1490* pathogenic mutation (also known as c.4468G>T), located in coding exon 12 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4468. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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