ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1994del (p.Asn665fs)

dbSNP: rs1555590714
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Total submissions: 3
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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) RCV000661212 SCV000783472 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001383271 SCV001582359 pathogenic Hereditary breast ovarian cancer syndrome 2021-10-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 29852322). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 433699). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn665Thrfs*36) 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).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502040 SCV000591361 likely pathogenic not provided no assertion criteria provided clinical testing

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