ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)

dbSNP: rs398122681
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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) RCV000077140 SCV000300070 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077140 SCV000325844 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585646 SCV000693530 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Leucine to a termination codon at amino acid residue 1365 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. The mutation database ClinVar contains entries for this variant (Variation ID: 91623). Truncating variants in the BRCA1 gene are known to be pathogenic.
Invitae RCV001854355 SCV002235735 pathogenic Hereditary breast ovarian cancer syndrome 2022-05-30 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: 91623). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 28724667, 29446198). This sequence change creates a premature translational stop signal (p.Leu1365*) 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).
Sharing Clinical Reports Project (SCRP) RCV000077140 SCV000108937 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-09 no assertion criteria provided clinical testing

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