ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)

dbSNP: rs273899696
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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) RCV000111985 SCV000299875 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 RCV002433545 SCV002753892 pathogenic Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter clinical testing The p.S1009* pathogenic mutation (also known as c.3026C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 3026. This changes the amino acid from a serine 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.
Revvity Omics, Revvity RCV003137588 SCV003827359 likely pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111985 SCV000144614 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-02 no assertion criteria provided clinical testing

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