ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter)

dbSNP: rs587782709
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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) RCV000241207 SCV000299690 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 RCV000132180 SCV000187259 pathogenic Hereditary cancer-predisposing syndrome 2015-12-09 criteria provided, single submitter clinical testing The p.E686* pathogenic mutation (also known as c.2056G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2056. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. 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 RCV001069876 SCV001235073 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu686*) 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 clinical features of BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 142776). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781477 SCV002020167 pathogenic not provided 2020-10-21 criteria provided, single submitter clinical testing

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