ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)

dbSNP: rs879255498
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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) RCV000257812 SCV000323932 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257812 SCV000326462 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763007 SCV000893452 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019078 SCV001180389 pathogenic Hereditary cancer-predisposing syndrome 2019-02-19 criteria provided, single submitter clinical testing The p.K309* pathogenic mutation (also known as c.925A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 925. This changes the amino acid from a lysine to a stop codon within coding exon 9. This mutation has been reported in families with hereditary breast and/or ovarian cancer (Lecarpentier J et al. Breast Cancer Res., 2012 Jul;14:R99; Rebbeck TR et al. Hum. Mutat. 2018 05;39(5):593-620). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855026 SCV002171863 pathogenic Hereditary breast ovarian cancer syndrome 2022-06-01 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: 266592). This premature translational stop signal has been observed in individual(s) with personal and/or family history of breast and/or ovarian cancer (PMID: 22762150, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys309*) 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).

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