ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)

dbSNP: rs397508011
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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) RCV000661789 SCV000784107 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857378 SCV002155888 pathogenic Hereditary breast ovarian cancer syndrome 2023-03-31 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: 52685). This variant is also known as 9048del4. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 21614564, 30702160). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2941Leufs*34) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577287 SCV000678942 not provided Familial cancer of breast no assertion provided literature only

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