ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)

dbSNP: rs80357775
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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) RCV000111522 SCV000299517 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 RCV002381411 SCV002693198 pathogenic Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing The c.984_985insC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 984, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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 RCV002514557 SCV003206951 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 125481). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change creates a premature translational stop signal (p.Asn329Glnfs*2) 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111522 SCV000143973 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1997-11-14 no assertion criteria provided clinical testing

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